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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

Angèle Tingaud-Sequeira; Aurélien Trimouille; Manju Salaria; Rachel Stapleton; Stéphane Claverol; Claudio Plaisant; Marc Bonneu; Estelle Lopez; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Human Genetics · Vol. 140, Issue 6 · pp. 933-944 · 2021

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2021-06-01
Publication Year2021
Volume140
Issue6
Pages933-944
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-021-02255-6

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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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