Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

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Authors: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stephanie S. Cornelis, ABCA4-Study Group, Carel B. Hoyng, Kati Kampjarvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stohr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, and Frans P.M. Cremers

Journal title: HGG advances

Journal number: 4, 100237

Journal publisher: Elsevier Inc

Published year: 2023

DOI identifier: 10.1016/j.xhgg.2023.100237

ISSN: 2666-2477