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Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

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Title: Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
Authors: Albarry MA; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia., Latif M; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia., Alreheli AQ; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia., Awadh MA; College of Applied Medical Sciences, Taibah University, Almadinah, Saudi Arabia., Almatrafi AM; Department of Biology, College of Science, Taibah University, Almadinah, Saudi Arabia., Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.; Department of Biology, College of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Basit S; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.
Source: PloS one [PLoS One] 2021 Feb 11; Vol. 16 (2), pp. e0246607. Date of Electronic Publication: 2021 Feb 11 (Print Publication: 2021).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
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  Data: <searchLink fieldCode="AU" term="%22Albarry+MA%22">Albarry MA</searchLink>; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Latif+M%22">Latif M</searchLink>; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alreheli+AQ%22">Alreheli AQ</searchLink>; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Awadh+MA%22">Awadh MA</searchLink>; College of Applied Medical Sciences, Taibah University, Almadinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Almatrafi+AM%22">Almatrafi AM</searchLink>; Department of Biology, College of Science, Taibah University, Almadinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Albalawi+AM%22">Albalawi AM</searchLink>; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.; Department of Biology, College of Science, King Abdulaziz University, Jeddah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Basit+S%22">Basit S</searchLink>; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.
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  Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2021 Feb 11; Vol. 16 (2), pp. e0246607. <i>Date of Electronic Publication: </i>2021 Feb 11 (<i>Print Publication: </i>2021).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101285081 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1932-6203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219326203%22">19326203 </searchLink><i>NLM ISO Abbreviation: </i>PLoS One <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33571247
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        Value: 10.1371/journal.pone.0246607
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              Text: 2021 Feb 11
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