RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-11-04

AUTHORS

José R Valverde, Javier Alonso, Itziar Palacios, Ángel Pestaña

ABSTRACT

BackgroundRetinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumour in children and potential cause of blindness from therapeutic eye ablation, second tumours in germ line carrier's survivors, and even death when left untreated. The molecular scanning of RB1 in search of germ line mutations lead to the publication of more than 900 mutations whose knowledge is important for genetic counselling and the characterization of phenotypic-genotypic relationships.ResultsA searchable database (RBGMdb) has been constructed with 932 published RB1 mutations. The spectrum of these mutations has been analyzed with the following results: 1) the retinoblastoma protein is frequently inactivated by deletions and nonsense mutations while missense mutations are the main inactivating event in most genetic diseases. 2) Near 40% of RB1 gene mutations are recurrent and gather in sixteen hot points, including twelve nonsense, two missense and three splicing mutations. The remainder mutations are scattered along RB1, being most frequent in exons 9, 10, 14, 17, 18, 20, and 23. 3) The analysis of RB1 mutations by country of origin of the patients identifies two groups in which the incidence of nonsense and splicing mutations show differences extremely significant, and suggest the involvement of predisposing ethnic backgrounds. 4) A significant association between late age at diagnosis and splicing mutations in bilateral retinoblastoma patients suggests the occurrence of a delayed-onset genotype. 5) Most of the reported mutations in low-penetrance families fall in three groups: a) Mutations in regulatory sequences at the promoter resulting in low expression of a normal Rb; b) Missense and in-frame deletions affecting non-essential sequence motifs which result in a partial inactivation of Rb functions; c) Splicing mutations leading to the reduction of normal mRNA splicing or to alternative splicing involving either true oncogenic or defective (weak) alleles.ConclusionThe analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Gene profiling of tumors will help to clarify the genetic background linked to ethnicity and variable expressivity or delayed onset phenotypes. More... »

PAGES

53

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2156-6-53

DOI

http://dx.doi.org/10.1186/1471-2156-6-53

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022501179

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16269091


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Codon, Nonsense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Databases, Nucleic Acid", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Epidemiology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Penetrance", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA Splicing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retinoblastoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retinoblastoma Protein", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Servicio de Inform\u00e1tica. Centro Nacional de Biotecnolog\u00eda, CSIC, Campus de Cantoblanco, 28049, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Servicio de Inform\u00e1tica. Centro Nacional de Biotecnolog\u00eda, CSIC, Campus de Cantoblanco, 28049, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Valverde", 
        "givenName": "Jos\u00e9 R", 
        "id": "sg:person.01316476270.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316476270.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alonso", 
        "givenName": "Javier", 
        "id": "sg:person.012571320022.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571320022.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palacios", 
        "givenName": "Itziar", 
        "id": "sg:person.014142332654.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014142332654.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Oncolab. Deparatamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \"A. Sols\", CSIC-UAM, 28029, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pesta\u00f1a", 
        "givenName": "\u00c1ngel", 
        "id": "sg:person.01257537002.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257537002.15"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf00286715", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015807098", 
          "https://doi.org/10.1007/bf00286715"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00284597", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025024243", 
          "https://doi.org/10.1007/bf00284597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/305779a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049589192", 
          "https://doi.org/10.1038/305779a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/353083a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029129601", 
          "https://doi.org/10.1038/353083a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050551", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019724198", 
          "https://doi.org/10.1007/s004390050551"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/36038", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025597222", 
          "https://doi.org/10.1038/36038"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00278187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006524116", 
          "https://doi.org/10.1007/bf00278187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-4302-0853-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029709420", 
          "https://doi.org/10.1007/978-1-4302-0853-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/bjc.1992.244", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038749801", 
          "https://doi.org/10.1038/bjc.1992.244"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/25292", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033871070", 
          "https://doi.org/10.1038/25292"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-11-04", 
    "datePublishedReg": "2005-11-04", 
    "description": "BackgroundRetinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumour in children and potential cause of blindness from therapeutic eye ablation, second tumours in germ line carrier's survivors, and even death when left untreated. The molecular scanning of RB1 in search of germ line mutations lead to the publication of more than 900 mutations whose knowledge is important for genetic counselling and the characterization of phenotypic-genotypic relationships.ResultsA searchable database (RBGMdb) has been constructed with 932 published RB1 mutations. The spectrum of these mutations has been analyzed with the following results: 1) the retinoblastoma protein is frequently inactivated by deletions and nonsense mutations while missense mutations are the main inactivating event in most genetic diseases. 2) Near 40% of RB1 gene mutations are recurrent and gather in sixteen hot points, including twelve nonsense, two missense and three splicing mutations. The remainder mutations are scattered along RB1, being most frequent in exons 9, 10, 14, 17, 18, 20, and 23. 3) The analysis of RB1 mutations by country of origin of the patients identifies two groups in which the incidence of nonsense and splicing mutations show differences extremely significant, and suggest the involvement of predisposing ethnic backgrounds. 4) A significant association between late age at diagnosis and splicing mutations in bilateral retinoblastoma patients suggests the occurrence of a delayed-onset genotype. 5) Most of the reported mutations in low-penetrance families fall in three groups: a) Mutations in regulatory sequences at the promoter resulting in low expression of a normal Rb; b) Missense and in-frame deletions affecting non-essential sequence motifs which result in a partial inactivation of Rb functions; c) Splicing mutations leading to the reduction of normal mRNA splicing or to alternative splicing involving either true oncogenic or defective (weak) alleles.ConclusionThe analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Gene profiling of tumors will help to clarify the genetic background linked to ethnicity and variable expressivity or delayed onset phenotypes.", 
    "genre": "article", 
    "id": "sg:pub.10.1186/1471-2156-6-53", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1412144", 
        "issn": [
          "2730-6844"
        ], 
        "name": "BMC Genomic Data", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "6"
      }
    ], 
    "keywords": [
      "splicing mutation", 
      "phenotypic-genotypic relationships", 
      "gene mutations", 
      "sequence motifs", 
      "RB1 gene mutations", 
      "mRNA splicing", 
      "regulatory sequences", 
      "searchable database", 
      "normal mRNA splicing", 
      "most genetic diseases", 
      "Rb function", 
      "phenotype-genotype relationships", 
      "retinoblastoma protein", 
      "germ-line mutations", 
      "normal Rb", 
      "RB1 mutations", 
      "frame deletion", 
      "gene profiling", 
      "genetic diseases", 
      "defective alleles", 
      "certain mutations", 
      "eye ablation", 
      "genetic background", 
      "nonsense mutation", 
      "missense mutations", 
      "mutations", 
      "splicing", 
      "molecular scanning", 
      "exon 9", 
      "variable expressivity", 
      "deletion", 
      "partial inactivation", 
      "common intraocular tumor", 
      "genetic counselling", 
      "missense", 
      "low expression", 
      "nonsense", 
      "Rb1", 
      "hereditary cancer", 
      "promoter", 
      "onset phenotype", 
      "bilateral retinoblastoma patients", 
      "protein", 
      "motif", 
      "phenotype", 
      "alleles", 
      "BackgroundRetinoblastoma", 
      "profiling", 
      "sequence", 
      "inactivation", 
      "expression", 
      "genotypes", 
      "family", 
      "mechanism", 
      "characterization", 
      "origin", 
      "hypothesis", 
      "expressivity", 
      "disease", 
      "function", 
      "analysis", 
      "Rb", 
      "tumors", 
      "potential causes", 
      "retinoblastoma patients", 
      "death", 
      "cancer", 
      "involvement", 
      "intraocular tumors", 
      "events", 
      "relationship", 
      "second tumor", 
      "occurrence", 
      "date", 
      "database", 
      "significant association", 
      "association", 
      "background", 
      "later age", 
      "two-group", 
      "knowledge", 
      "survivors", 
      "group", 
      "differences", 
      "ethnic background", 
      "ethnicity", 
      "results", 
      "ablation", 
      "reduction", 
      "patients", 
      "incidence", 
      "diagnosis", 
      "cause", 
      "blindness", 
      "onset", 
      "search", 
      "age", 
      "children", 
      "counselling", 
      "country of origin", 
      "scanning", 
      "spectra", 
      "point", 
      "publications", 
      "countries", 
      "hot point", 
      "prototype"
    ], 
    "name": "RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database", 
    "pagination": "53", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1022501179"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1471-2156-6-53"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16269091"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1471-2156-6-53", 
      "https://app.dimensions.ai/details/publication/pub.1022501179"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-05-10T09:56", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/article/article_406.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/1471-2156-6-53"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53'


 

This table displays all metadata directly associated to this object as RDF triples.

268 TRIPLES      22 PREDICATES      152 URIs      134 LITERALS      16 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1471-2156-6-53 schema:about N095a44edc1244075b57a87289d43ac97
2 N0c613302102649cab96babeeeea9adc6
3 N3970013abba545209fd4500d2e6e68f4
4 Nb39f27f2d5da4aa2926c27d7f8be4a7b
5 Nba455163502e496a8ab64067e0d022fa
6 Nbeca28ddd39246a4803147aa7882c49a
7 Nd3c153a86641459a8786debce5e09882
8 Ne43f76f9fd7e425aa6d5e4b8883e725a
9 Nf8ec02a764bd4052abf9bc406d336458
10 anzsrc-for:06
11 anzsrc-for:0604
12 schema:author Nadcde44b5c224a7bbee0da933503666c
13 schema:citation sg:pub.10.1007/978-1-4302-0853-2
14 sg:pub.10.1007/bf00278187
15 sg:pub.10.1007/bf00284597
16 sg:pub.10.1007/bf00286715
17 sg:pub.10.1007/s004390050551
18 sg:pub.10.1038/25292
19 sg:pub.10.1038/305779a0
20 sg:pub.10.1038/353083a0
21 sg:pub.10.1038/36038
22 sg:pub.10.1038/bjc.1992.244
23 schema:datePublished 2005-11-04
24 schema:datePublishedReg 2005-11-04
25 schema:description BackgroundRetinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumour in children and potential cause of blindness from therapeutic eye ablation, second tumours in germ line carrier's survivors, and even death when left untreated. The molecular scanning of RB1 in search of germ line mutations lead to the publication of more than 900 mutations whose knowledge is important for genetic counselling and the characterization of phenotypic-genotypic relationships.ResultsA searchable database (RBGMdb) has been constructed with 932 published RB1 mutations. The spectrum of these mutations has been analyzed with the following results: 1) the retinoblastoma protein is frequently inactivated by deletions and nonsense mutations while missense mutations are the main inactivating event in most genetic diseases. 2) Near 40% of RB1 gene mutations are recurrent and gather in sixteen hot points, including twelve nonsense, two missense and three splicing mutations. The remainder mutations are scattered along RB1, being most frequent in exons 9, 10, 14, 17, 18, 20, and 23. 3) The analysis of RB1 mutations by country of origin of the patients identifies two groups in which the incidence of nonsense and splicing mutations show differences extremely significant, and suggest the involvement of predisposing ethnic backgrounds. 4) A significant association between late age at diagnosis and splicing mutations in bilateral retinoblastoma patients suggests the occurrence of a delayed-onset genotype. 5) Most of the reported mutations in low-penetrance families fall in three groups: a) Mutations in regulatory sequences at the promoter resulting in low expression of a normal Rb; b) Missense and in-frame deletions affecting non-essential sequence motifs which result in a partial inactivation of Rb functions; c) Splicing mutations leading to the reduction of normal mRNA splicing or to alternative splicing involving either true oncogenic or defective (weak) alleles.ConclusionThe analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Gene profiling of tumors will help to clarify the genetic background linked to ethnicity and variable expressivity or delayed onset phenotypes.
26 schema:genre article
27 schema:inLanguage en
28 schema:isAccessibleForFree true
29 schema:isPartOf Nd3fbb25ca15c4bb5a81654cdedd9f932
30 Nfe547a38920f45d085bcad5c32666575
31 sg:journal.1412144
32 schema:keywords BackgroundRetinoblastoma
33 RB1 gene mutations
34 RB1 mutations
35 Rb
36 Rb function
37 Rb1
38 ablation
39 age
40 alleles
41 analysis
42 association
43 background
44 bilateral retinoblastoma patients
45 blindness
46 cancer
47 cause
48 certain mutations
49 characterization
50 children
51 common intraocular tumor
52 counselling
53 countries
54 country of origin
55 database
56 date
57 death
58 defective alleles
59 deletion
60 diagnosis
61 differences
62 disease
63 ethnic background
64 ethnicity
65 events
66 exon 9
67 expression
68 expressivity
69 eye ablation
70 family
71 frame deletion
72 function
73 gene mutations
74 gene profiling
75 genetic background
76 genetic counselling
77 genetic diseases
78 genotypes
79 germ-line mutations
80 group
81 hereditary cancer
82 hot point
83 hypothesis
84 inactivation
85 incidence
86 intraocular tumors
87 involvement
88 knowledge
89 later age
90 low expression
91 mRNA splicing
92 mechanism
93 missense
94 missense mutations
95 molecular scanning
96 most genetic diseases
97 motif
98 mutations
99 nonsense
100 nonsense mutation
101 normal Rb
102 normal mRNA splicing
103 occurrence
104 onset
105 onset phenotype
106 origin
107 partial inactivation
108 patients
109 phenotype
110 phenotype-genotype relationships
111 phenotypic-genotypic relationships
112 point
113 potential causes
114 profiling
115 promoter
116 protein
117 prototype
118 publications
119 reduction
120 regulatory sequences
121 relationship
122 results
123 retinoblastoma patients
124 retinoblastoma protein
125 scanning
126 search
127 searchable database
128 second tumor
129 sequence
130 sequence motifs
131 significant association
132 spectra
133 splicing
134 splicing mutation
135 survivors
136 tumors
137 two-group
138 variable expressivity
139 schema:name RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database
140 schema:pagination 53
141 schema:productId N0ef1ab283aff46508bfc973e75a03efe
142 N8be5128a5fa94018b1270a19080a9278
143 Ne6808600fad54dfd86cf01e9e0e3135b
144 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022501179
145 https://doi.org/10.1186/1471-2156-6-53
146 schema:sdDatePublished 2022-05-10T09:56
147 schema:sdLicense https://scigraph.springernature.com/explorer/license/
148 schema:sdPublisher N4332bbba416240e1b1cb08ffbbfb547f
149 schema:url https://doi.org/10.1186/1471-2156-6-53
150 sgo:license sg:explorer/license/
151 sgo:sdDataset articles
152 rdf:type schema:ScholarlyArticle
153 N095a44edc1244075b57a87289d43ac97 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name RNA Splicing
155 rdf:type schema:DefinedTerm
156 N0c613302102649cab96babeeeea9adc6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name Codon, Nonsense
158 rdf:type schema:DefinedTerm
159 N0ef1ab283aff46508bfc973e75a03efe schema:name doi
160 schema:value 10.1186/1471-2156-6-53
161 rdf:type schema:PropertyValue
162 N3970013abba545209fd4500d2e6e68f4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Mutation
164 rdf:type schema:DefinedTerm
165 N4332bbba416240e1b1cb08ffbbfb547f schema:name Springer Nature - SN SciGraph project
166 rdf:type schema:Organization
167 N50bb3d0b8b3b4a709bef877fe7bb3a55 rdf:first sg:person.014142332654.06
168 rdf:rest Nffdbc5f0c95d44f09b644b1358af12d0
169 N8be5128a5fa94018b1270a19080a9278 schema:name dimensions_id
170 schema:value pub.1022501179
171 rdf:type schema:PropertyValue
172 N8cefeb8d753f4324983c4bde16eba16e rdf:first sg:person.012571320022.50
173 rdf:rest N50bb3d0b8b3b4a709bef877fe7bb3a55
174 Nadcde44b5c224a7bbee0da933503666c rdf:first sg:person.01316476270.13
175 rdf:rest N8cefeb8d753f4324983c4bde16eba16e
176 Nb39f27f2d5da4aa2926c27d7f8be4a7b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Penetrance
178 rdf:type schema:DefinedTerm
179 Nba455163502e496a8ab64067e0d022fa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Databases, Nucleic Acid
181 rdf:type schema:DefinedTerm
182 Nbeca28ddd39246a4803147aa7882c49a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Retinoblastoma
184 rdf:type schema:DefinedTerm
185 Nd3c153a86641459a8786debce5e09882 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Molecular Epidemiology
187 rdf:type schema:DefinedTerm
188 Nd3fbb25ca15c4bb5a81654cdedd9f932 schema:volumeNumber 6
189 rdf:type schema:PublicationVolume
190 Ne43f76f9fd7e425aa6d5e4b8883e725a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Retinoblastoma Protein
192 rdf:type schema:DefinedTerm
193 Ne6808600fad54dfd86cf01e9e0e3135b schema:name pubmed_id
194 schema:value 16269091
195 rdf:type schema:PropertyValue
196 Nf8ec02a764bd4052abf9bc406d336458 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
197 schema:name Humans
198 rdf:type schema:DefinedTerm
199 Nfe547a38920f45d085bcad5c32666575 schema:issueNumber 1
200 rdf:type schema:PublicationIssue
201 Nffdbc5f0c95d44f09b644b1358af12d0 rdf:first sg:person.01257537002.15
202 rdf:rest rdf:nil
203 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
204 schema:name Biological Sciences
205 rdf:type schema:DefinedTerm
206 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
207 schema:name Genetics
208 rdf:type schema:DefinedTerm
209 sg:journal.1412144 schema:issn 2730-6844
210 schema:name BMC Genomic Data
211 schema:publisher Springer Nature
212 rdf:type schema:Periodical
213 sg:person.012571320022.50 schema:affiliation grid-institutes:grid.4711.3
214 schema:familyName Alonso
215 schema:givenName Javier
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571320022.50
217 rdf:type schema:Person
218 sg:person.01257537002.15 schema:affiliation grid-institutes:grid.4711.3
219 schema:familyName Pestaña
220 schema:givenName Ángel
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257537002.15
222 rdf:type schema:Person
223 sg:person.01316476270.13 schema:affiliation grid-institutes:None
224 schema:familyName Valverde
225 schema:givenName José R
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316476270.13
227 rdf:type schema:Person
228 sg:person.014142332654.06 schema:affiliation grid-institutes:grid.4711.3
229 schema:familyName Palacios
230 schema:givenName Itziar
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014142332654.06
232 rdf:type schema:Person
233 sg:pub.10.1007/978-1-4302-0853-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029709420
234 https://doi.org/10.1007/978-1-4302-0853-2
235 rdf:type schema:CreativeWork
236 sg:pub.10.1007/bf00278187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006524116
237 https://doi.org/10.1007/bf00278187
238 rdf:type schema:CreativeWork
239 sg:pub.10.1007/bf00284597 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025024243
240 https://doi.org/10.1007/bf00284597
241 rdf:type schema:CreativeWork
242 sg:pub.10.1007/bf00286715 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015807098
243 https://doi.org/10.1007/bf00286715
244 rdf:type schema:CreativeWork
245 sg:pub.10.1007/s004390050551 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019724198
246 https://doi.org/10.1007/s004390050551
247 rdf:type schema:CreativeWork
248 sg:pub.10.1038/25292 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033871070
249 https://doi.org/10.1038/25292
250 rdf:type schema:CreativeWork
251 sg:pub.10.1038/305779a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049589192
252 https://doi.org/10.1038/305779a0
253 rdf:type schema:CreativeWork
254 sg:pub.10.1038/353083a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029129601
255 https://doi.org/10.1038/353083a0
256 rdf:type schema:CreativeWork
257 sg:pub.10.1038/36038 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025597222
258 https://doi.org/10.1038/36038
259 rdf:type schema:CreativeWork
260 sg:pub.10.1038/bjc.1992.244 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038749801
261 https://doi.org/10.1038/bjc.1992.244
262 rdf:type schema:CreativeWork
263 grid-institutes:None schema:alternateName Servicio de Informática. Centro Nacional de Biotecnología, CSIC, Campus de Cantoblanco, 28049, Madrid, Spain
264 schema:name Servicio de Informática. Centro Nacional de Biotecnología, CSIC, Campus de Cantoblanco, 28049, Madrid, Spain
265 rdf:type schema:Organization
266 grid-institutes:grid.4711.3 schema:alternateName Oncolab. Deparatamento de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas "A. Sols", CSIC-UAM, 28029, Madrid, Spain
267 schema:name Oncolab. Deparatamento de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas "A. Sols", CSIC-UAM, 28029, Madrid, Spain
268 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...