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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Fabiola Ceroni; Domingo Aguilera-Garcia; Nicolas Chassaing; Dorine Arjanne Bax; Fiona Blanco-Kelly; Patricia Ramos; Maria Tarilonte; Cristina Villaverde; Luciana Rodrigues Jacy da Silva; Maria Juliana Ballesta-Martínez; Maria Jose Sanchez-Soler; Richard James Holt; Lisa Cooper-Charles; Jonathan Bruty; Yvonne Wallis; Dominic McMullan; Jonathan Hoffman; David Bunyan; Alison Stewart; Helen Stewart; Katherine Lachlan; Alan Fryer; Victoria McKay; Joëlle Roume; Pascal Dureau; Anand Saggar; Michael Griffiths; Patrick Calvas; Carmen Ayuso; Marta Corton; Nicola K Ragge
Human Genetics · Vol. 138, Issue 8-9 · pp. 1027-1042 · 2019

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2019-09-01
Publication Year2019
Volume138
Issue8-9
Pages1027-1042
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-018-1875-2

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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