Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

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Authors: Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova; Genomics England Research Consortium; Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso,

Journal title: Genome Medicine

Journal number: 16:7

Journal publisher: BioMed Central

Published year: 2024

DOI identifier: 10.1186/s13073-023-01277-1

ISSN: 1756-994X