Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
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Published:2020-03
Issue:3
Volume:22
Page:598-609
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Williamson Kathleen A.,
Hall H. Nikki,
Owen Liusaidh J.,
Livesey Benjamin J.,
Hanson Isabel M.,
Adams G.,
Bodek Simon,
Calvas Patrick,
Castle Bruce,
Clarke Michael,
Deng Alexander T.,
Edery Patrick,
Fisher Richard,
Gillessen-Kaesbach Gabriele,
Heon Elise,
Hurst Jane,
Josifova Dragana,
Lorenz Birgit,
McKee Shane,
Meire Francoise,
Moore Anthony T.,
Parker Michael,
Reiff Charlotte M.,
Self Jay,
Tobias Edward S.,
Verheij Joke B.,
Willems Marjolaine,
Williams Denise,
van Heyningen Veronica,
Marsh Joseph A.,
FitzPatrick David R.ORCID
Subject
Genetics (clinical)
Cited by
49 articles.
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