Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-12

AUTHORS

Satomi Okano, Yoshio Makita, Akihiro Katada, Yasuaki Harabuchi, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Issei Imoto

ABSTRACT

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 (CDH23) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23. More... »

PAGES

8

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0037-y

DOI

http://dx.doi.org/10.1038/s41439-019-0037-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111673390

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30774966


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "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"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Hokkaido Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okano", 
        "givenName": "Satomi", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Asahikawa Medical University", 
          "id": "https://www.grid.ac/institutes/grid.252427.4", 
          "name": [
            "Education Center, Asahikawa Medical University, Asahikawa, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Makita", 
        "givenName": "Yoshio", 
        "id": "sg:person.0624701703.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624701703.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Asahikawa Medical University", 
          "id": "https://www.grid.ac/institutes/grid.252427.4", 
          "name": [
            "Department of Otolaryngology-Head and Neck Surgery, Asahikawa Medical University, Asahikawa, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Katada", 
        "givenName": "Akihiro", 
        "id": "sg:person.01000001030.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000001030.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Asahikawa Medical University", 
          "id": "https://www.grid.ac/institutes/grid.252427.4", 
          "name": [
            "Department of Otolaryngology-Head and Neck Surgery, Asahikawa Medical University, Asahikawa, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harabuchi", 
        "givenName": "Yasuaki", 
        "id": "sg:person.01241571346.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241571346.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokushima", 
          "id": "https://www.grid.ac/institutes/grid.267335.6", 
          "name": [
            "Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kohmoto", 
        "givenName": "Tomohiro", 
        "id": "sg:person.0602534415.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602534415.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokushima", 
          "id": "https://www.grid.ac/institutes/grid.267335.6", 
          "name": [
            "Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Naruto", 
        "givenName": "Takuya", 
        "id": "sg:person.01075463515.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075463515.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokushima", 
          "id": "https://www.grid.ac/institutes/grid.267335.6", 
          "name": [
            "Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Masuda", 
        "givenName": "Kiyoshi", 
        "id": "sg:person.016523133742.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016523133742.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Aichi Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.410800.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan", 
            "Risk Assessment Center, Aichi Cancer Center Hospital, Nagoya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Imoto", 
        "givenName": "Issei", 
        "id": "sg:person.01264511401.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264511401.47"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.bbadis.2014.11.020", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013810824"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320500107", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014221007"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320500107", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014221007"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/hgv.2016.6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024599804", 
          "https://doi.org/10.1038/hgv.2016.6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature02483", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025118196", 
          "https://doi.org/10.1038/nature02483"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature02483", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025118196", 
          "https://doi.org/10.1038/nature02483"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2006.041954", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027860564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1167/iovs.14-15355", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030087713"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature06091", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040787924", 
          "https://doi.org/10.1038/nature06091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/hgv.2014.22", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042347022", 
          "https://doi.org/10.1038/hgv.2014.22"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/83660", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043837636", 
          "https://doi.org/10.1038/83660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/83660", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043837636", 
          "https://doi.org/10.1038/83660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2011-100262", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051578194"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/hgv.2016.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051616746", 
          "https://doi.org/10.1038/hgv.2016.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-physiol-012110-142228", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052278422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052514665"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1529/biophysj.107.125591", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052680466"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/341558", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058639045"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3928/23258160-20160126-14", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071730231"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ijporl.2018.02.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101044183"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 (CDH23) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41439-019-0037-y", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1320608", 
        "issn": [
          "2054-345X"
        ], 
        "name": "Human Genome Variation", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "6"
      }
    ], 
    "name": "Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I", 
    "pagination": "8", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7bf3c1962ecfbcd53261431ed75ccc28925eb41b51c65bbc248ce6285185b521"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30774966"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101652445"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41439-019-0037-y"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111673390"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41439-019-0037-y", 
      "https://app.dimensions.ai/details/publication/pub.1111673390"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:12", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000353_0000000353/records_45363_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41439-019-0037-y"
  }
]
 

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.10.1038/s41439-019-0037-y'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41439-019-0037-y'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41439-019-0037-y'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41439-019-0037-y'


 

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

183 TRIPLES      21 PREDICATES      46 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41439-019-0037-y schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Ndb67d81e8a4344dd9b415e031553ca8a
4 schema:citation sg:pub.10.1038/83660
5 sg:pub.10.1038/hgv.2014.22
6 sg:pub.10.1038/hgv.2016.30
7 sg:pub.10.1038/hgv.2016.6
8 sg:pub.10.1038/nature02483
9 sg:pub.10.1038/nature06091
10 https://doi.org/10.1002/ajmg.1320500107
11 https://doi.org/10.1002/humu.20761
12 https://doi.org/10.1016/j.bbadis.2014.11.020
13 https://doi.org/10.1016/j.ijporl.2018.02.016
14 https://doi.org/10.1086/341558
15 https://doi.org/10.1136/jmedgenet-2011-100262
16 https://doi.org/10.1136/jmg.2006.041954
17 https://doi.org/10.1146/annurev-physiol-012110-142228
18 https://doi.org/10.1167/iovs.14-15355
19 https://doi.org/10.1529/biophysj.107.125591
20 https://doi.org/10.3928/23258160-20160126-14
21 schema:datePublished 2019-12
22 schema:datePublishedReg 2019-12-01
23 schema:description Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the <i>Cadherin 23</i> (<i>CDH23</i>) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G&gt;A/p.(Glu44Lys) was identified, expanding the mutation spectrum of <i>CDH23</i>.
24 schema:genre research_article
25 schema:inLanguage en
26 schema:isAccessibleForFree false
27 schema:isPartOf N3b578e9e35af43d3a3329f8c7b4a4cea
28 Nf560988a70854218b0e3f2d2e34badac
29 sg:journal.1320608
30 schema:name Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
31 schema:pagination 8
32 schema:productId N0d5e4f2f11ec464082704c4a6396e53d
33 N51abaa4482014385a1606ed0371798b9
34 N7344c0d672bf411aaa822fbc1637d7d8
35 Nb913741df01b47c9b150fb1d277dde3b
36 Ne861b4592eb2482ebbe6f787143d951a
37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111673390
38 https://doi.org/10.1038/s41439-019-0037-y
39 schema:sdDatePublished 2019-04-11T11:12
40 schema:sdLicense https://scigraph.springernature.com/explorer/license/
41 schema:sdPublisher N289c411b989b423fb18a186226074b43
42 schema:url https://www.nature.com/articles/s41439-019-0037-y
43 sgo:license sg:explorer/license/
44 sgo:sdDataset articles
45 rdf:type schema:ScholarlyArticle
46 N02fde1313baa4191b4dc2cf6621582ef schema:name Hokkaido Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan
47 rdf:type schema:Organization
48 N0d5e4f2f11ec464082704c4a6396e53d schema:name dimensions_id
49 schema:value pub.1111673390
50 rdf:type schema:PropertyValue
51 N1cb9ae726f4943439f3f043eb6b076df rdf:first sg:person.01000001030.25
52 rdf:rest N1cc1efd72858435ab479f42b6dbee96a
53 N1cc1efd72858435ab479f42b6dbee96a rdf:first sg:person.01241571346.99
54 rdf:rest N56384223426a408ba29bdaab14b701c8
55 N22f2a563774f44a4817ccc866c0bd8df rdf:first sg:person.01075463515.64
56 rdf:rest Nc6705171599a43e6af6f17ffe4581533
57 N289c411b989b423fb18a186226074b43 schema:name Springer Nature - SN SciGraph project
58 rdf:type schema:Organization
59 N3b578e9e35af43d3a3329f8c7b4a4cea schema:issueNumber 1
60 rdf:type schema:PublicationIssue
61 N51abaa4482014385a1606ed0371798b9 schema:name pubmed_id
62 schema:value 30774966
63 rdf:type schema:PropertyValue
64 N56384223426a408ba29bdaab14b701c8 rdf:first sg:person.0602534415.22
65 rdf:rest N22f2a563774f44a4817ccc866c0bd8df
66 N57df823bffda47599b129d4bd2a9a1f5 rdf:first sg:person.01264511401.47
67 rdf:rest rdf:nil
68 N7344c0d672bf411aaa822fbc1637d7d8 schema:name doi
69 schema:value 10.1038/s41439-019-0037-y
70 rdf:type schema:PropertyValue
71 N81f2639ddaf94c4e96476f67d46ff814 schema:affiliation N02fde1313baa4191b4dc2cf6621582ef
72 schema:familyName Okano
73 schema:givenName Satomi
74 rdf:type schema:Person
75 Nb913741df01b47c9b150fb1d277dde3b schema:name nlm_unique_id
76 schema:value 101652445
77 rdf:type schema:PropertyValue
78 Nc0883f548c8e48b8aeadb60c2fffdd84 rdf:first sg:person.0624701703.00
79 rdf:rest N1cb9ae726f4943439f3f043eb6b076df
80 Nc6705171599a43e6af6f17ffe4581533 rdf:first sg:person.016523133742.98
81 rdf:rest N57df823bffda47599b129d4bd2a9a1f5
82 Ndb67d81e8a4344dd9b415e031553ca8a rdf:first N81f2639ddaf94c4e96476f67d46ff814
83 rdf:rest Nc0883f548c8e48b8aeadb60c2fffdd84
84 Ne861b4592eb2482ebbe6f787143d951a schema:name readcube_id
85 schema:value 7bf3c1962ecfbcd53261431ed75ccc28925eb41b51c65bbc248ce6285185b521
86 rdf:type schema:PropertyValue
87 Nf560988a70854218b0e3f2d2e34badac schema:volumeNumber 6
88 rdf:type schema:PublicationVolume
89 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
90 schema:name Biological Sciences
91 rdf:type schema:DefinedTerm
92 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
93 schema:name Genetics
94 rdf:type schema:DefinedTerm
95 sg:journal.1320608 schema:issn 2054-345X
96 schema:name Human Genome Variation
97 rdf:type schema:Periodical
98 sg:person.01000001030.25 schema:affiliation https://www.grid.ac/institutes/grid.252427.4
99 schema:familyName Katada
100 schema:givenName Akihiro
101 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000001030.25
102 rdf:type schema:Person
103 sg:person.01075463515.64 schema:affiliation https://www.grid.ac/institutes/grid.267335.6
104 schema:familyName Naruto
105 schema:givenName Takuya
106 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075463515.64
107 rdf:type schema:Person
108 sg:person.01241571346.99 schema:affiliation https://www.grid.ac/institutes/grid.252427.4
109 schema:familyName Harabuchi
110 schema:givenName Yasuaki
111 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241571346.99
112 rdf:type schema:Person
113 sg:person.01264511401.47 schema:affiliation https://www.grid.ac/institutes/grid.410800.d
114 schema:familyName Imoto
115 schema:givenName Issei
116 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264511401.47
117 rdf:type schema:Person
118 sg:person.016523133742.98 schema:affiliation https://www.grid.ac/institutes/grid.267335.6
119 schema:familyName Masuda
120 schema:givenName Kiyoshi
121 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016523133742.98
122 rdf:type schema:Person
123 sg:person.0602534415.22 schema:affiliation https://www.grid.ac/institutes/grid.267335.6
124 schema:familyName Kohmoto
125 schema:givenName Tomohiro
126 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602534415.22
127 rdf:type schema:Person
128 sg:person.0624701703.00 schema:affiliation https://www.grid.ac/institutes/grid.252427.4
129 schema:familyName Makita
130 schema:givenName Yoshio
131 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624701703.00
132 rdf:type schema:Person
133 sg:pub.10.1038/83660 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043837636
134 https://doi.org/10.1038/83660
135 rdf:type schema:CreativeWork
136 sg:pub.10.1038/hgv.2014.22 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042347022
137 https://doi.org/10.1038/hgv.2014.22
138 rdf:type schema:CreativeWork
139 sg:pub.10.1038/hgv.2016.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051616746
140 https://doi.org/10.1038/hgv.2016.30
141 rdf:type schema:CreativeWork
142 sg:pub.10.1038/hgv.2016.6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024599804
143 https://doi.org/10.1038/hgv.2016.6
144 rdf:type schema:CreativeWork
145 sg:pub.10.1038/nature02483 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025118196
146 https://doi.org/10.1038/nature02483
147 rdf:type schema:CreativeWork
148 sg:pub.10.1038/nature06091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040787924
149 https://doi.org/10.1038/nature06091
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1002/ajmg.1320500107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014221007
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1002/humu.20761 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052514665
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1016/j.bbadis.2014.11.020 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013810824
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1016/j.ijporl.2018.02.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101044183
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1086/341558 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058639045
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1136/jmedgenet-2011-100262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051578194
162 rdf:type schema:CreativeWork
163 https://doi.org/10.1136/jmg.2006.041954 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027860564
164 rdf:type schema:CreativeWork
165 https://doi.org/10.1146/annurev-physiol-012110-142228 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052278422
166 rdf:type schema:CreativeWork
167 https://doi.org/10.1167/iovs.14-15355 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030087713
168 rdf:type schema:CreativeWork
169 https://doi.org/10.1529/biophysj.107.125591 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052680466
170 rdf:type schema:CreativeWork
171 https://doi.org/10.3928/23258160-20160126-14 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071730231
172 rdf:type schema:CreativeWork
173 https://www.grid.ac/institutes/grid.252427.4 schema:alternateName Asahikawa Medical University
174 schema:name Department of Otolaryngology-Head and Neck Surgery, Asahikawa Medical University, Asahikawa, Japan
175 Education Center, Asahikawa Medical University, Asahikawa, Japan
176 rdf:type schema:Organization
177 https://www.grid.ac/institutes/grid.267335.6 schema:alternateName University of Tokushima
178 schema:name Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan
179 rdf:type schema:Organization
180 https://www.grid.ac/institutes/grid.410800.d schema:alternateName Aichi Cancer Center
181 schema:name Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan
182 Risk Assessment Center, Aichi Cancer Center Hospital, Nagoya, Japan
183 rdf:type schema:Organization
 




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


...