Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.
Filatova A, Reveguk I, Piatkova M, Bessonova D, Kuziakova O, Demakova V, Romanishin A, Fishman V, Imanmalik Y, Chekanov N, Skitchenko R, Barbitoff Y, Kardymon O, Skoblov M.
Filatova A, et al.
Nucleic Acids Res. 2023 Feb 22;51(3):1229-1244. doi: 10.1093/nar/gkac1247.
Nucleic Acids Res. 2023.
PMID: 36651276
Free PMC article.