Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: DMD: V495M; rs754176290
Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.
Balkan Journal Of Medical Genetics : Bjmg
Milic Rasic, V V; Vojinovic, D D; Pesovic, J J; Mijalkovic, G G; Lukic, V V; Mladenovic, J J; Kosac, A A; Novakovic, I I; Maksimovic, N N; Romac, S S; Todorovic, S S; Savic Pavicevic, D D