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Combining a Prioritization Strategy and Functional Studies Nominates 5’UTR Variants Underlying Inherited Retinal Disease

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,Carlo Rivolta,Raymond T O’Keefe,Jamie Ellingford,Andrew R Webster,Gavin Arno,Carmen Ayuso,Julie De Zaeytijd,Bart P Leroy,Elfride De Baere,Frauke Coppieters

GENOME MEDICINE（2024）

引用 2|浏览44
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关键词
5’untranslated region (5’UTR),Upstream open reading frame (uORF),Non-coding variation,Whole genome sequencing (WGS),Whole exome sequencing (WES),In silico prioritization,Variant interpretation,Functional studies,Inherited retinal disease (IRD)
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