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Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

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Bibliographic Details
Title: Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Authors: Reunert, Janine1, Heuvel, Alijda1, Rust, Stephan1, Marquardt, Thorsten1, marquat@uni-muenster.de
Source: American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p930-936, 7p
Database: Applied Science & Technology Source
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  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 148592026
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
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  Data: <searchLink fieldCode="AU" term="%22Reunert%2C+Janine%22">Reunert, Janine</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Heuvel%2C+Alijda%22">Heuvel, Alijda</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Rust%2C+Stephan%22">Rust, Stephan</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Marquardt%2C+Thorsten%22">Marquardt, Thorsten</searchLink><relatesTo>1</relatesTo>, <i>marquat@uni-muenster.de</i>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Mar2021, Vol. 185 Issue 3, p930-936, 7p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=148592026
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.62048
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 930
    Titles:
      – TitleFull: Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Reunert, Janine
      – PersonEntity:
          Name:
            NameFull: Heuvel, Alijda
      – PersonEntity:
          Name:
            NameFull: Rust, Stephan
      – PersonEntity:
          Name:
            NameFull: Marquardt, Thorsten
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          Dates:
            – D: 01
              M: 03
              Text: Mar2021
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-print
              Value: 15524825
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            – Type: volume
              Value: 185
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
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