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Combining a prioritization strategy and functional studies ..:
Alfredo Dueñas Rey
;
Marta del Pozo Valero
;
Manon Bouckaert
...
https://doi.org/10.1186/s13073-023-01277-1. , 2024
Link:
https://doi.org/10.1186/s13073-023-01277-1
RT Journal T1
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3ef1b0b6663c4cf89d5498ab57ec00ff&Exemplar=1&LAN=DE A1 Alfredo Dueñas Rey A1 Marta del Pozo Valero A1 Manon Bouckaert A1 Katherine A Wood A1 Filip Van den Broeck A1 Malena Daich Varela A1 Huw B Thomas A1 Mattias Van Heetvelde A1 Marieke De Bruyne A1 Stijn Van de Sompele A1 Miriam Bauwens A1 Hanne Lenaerts A1 Quinten Mahieu A1 Dragana Josifova A1 Genomics England Research Consortium A1 Carlo Rivolta A1 Raymond T O'Keefe A1 Jamie Ellingford A1 Andrew R Webster A1 Gavin Arno A1 Carmen Ayuso A1 Julie De Zaeytijd A1 Bart P Leroy A1 Elfride De Baere A1 Frauke Coppieters PB BMC YR 2024 K1 5'untranslated region (5'UTR) K1 Upstream open reading frame (uORF) K1 Non-coding variation K1 Whole genome sequencing (WGS) K1 Whole exome sequencing (WES) K1 In silico prioritization K1 Medicine K1 R K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s13073-023-01277-1 LK http://dx.doi.org/https://doi.org/10.1186/s13073-023-01277-1 DO https://doi.org/10.1186/s13073-023-01277-1 SF ELIB - SuUB Bremen
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