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: A608V; rs189896732
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Journal Of Child Neurology
Cunniff, Christopher C; Andrews, Jennifer J; Meaney, F John FJ; Mathews, Katherine D KD; Matthews, Dennis D; Ciafaloni, Emma E; Miller, Timothy M TM; Bodensteiner, John B JB; Miller, Lisa A LA; James, Katherine A KA; Druschel, Charlotte M CM; Romitti, Paul A PA; Pandya, Shree S