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

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Title: Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Authors: Dueñas Rey, Alfredo1,2 (AUTHOR), del Pozo Valero, Marta1,2,3 (AUTHOR), Bouckaert, Manon1,2 (AUTHOR), Wood, Katherine A4 (AUTHOR), Van den Broeck, Filip5,6 (AUTHOR), Varela, Malena Daich7,8 (AUTHOR), Thomas, Huw B4 (AUTHOR), Van Heetvelde, Mattias1,2 (AUTHOR), De Bruyne, Marieke1,2 (AUTHOR), Van de Sompele, Stijn1,2 (AUTHOR), Bauwens, Miriam1,2 (AUTHOR), Lenaerts, Hanne1,2 (AUTHOR), Mahieu, Quinten1,2 (AUTHOR), Josifova, Dragana9 (AUTHOR), Rivolta, Carlo10,11,12 (AUTHOR), O'Keefe, Raymond T4 (AUTHOR), Ellingford, Jamie4,13,14 (AUTHOR), Webster, Andrew R7,8 (AUTHOR), Arno, Gavin7,8 (AUTHOR), Ayuso, Carmen3,15 (AUTHOR)
Source: Genome Medicine. 1/6/2024, Vol. 16 Issue 1, p1-21. 21p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 1/6/2024, Vol. 16 Issue 1, p1-21. 21p.
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