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: ATM: E1301G; rs776762178
Yang, Chen C; Austin, Frances F; Richard, Hope H; Idowu, Michael M; Williamson, Vernell V; Sabato, Fernanda F; Ferreira-Gonzalez, Andrea A; Turner, Scott A SA
Publication Date: 2019-10
Variant appearance in text: ATM: 3902A>G; Glu1301Gly