Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

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Authors: Laura Whelan, Adrian Dockery, Kirk A J Stephenson, Julia Zhu, Ella Kopčić, Iris J M Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J O' Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P M Cremers, David J Keegan, Paul F Kenna, G Jane Farrar

Journal title: Scientific Reports

Journal number: 13(1):9380

Journal publisher: Nature Publishing Group

Published year: 2023

DOI identifier: 10.1038/s41598-023-35889-9

ISSN: 2045-2322