Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland

Laura Whelan,Adrian Dockery,Mubeen Khan,Zelia Corradi,Kirk Stephenson,Julia Zhu,Stephanie Cornelis,Jacqueline Turner, James O'Byrne,Giuliana Silvestri,David Keegan,Paul Kenna,Susanne Roosing,Claire-Marie Dhaenens,Frans Cremers, G. Farrar

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2021）

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abca4,disease

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