Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: ATM: L2656P; rs121434218
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Human Mutation
Mitui, M M; Nahas, S A SA; Du, L T LT; Yang, Z Z; Lai, C H CH; Nakamura, K K; Arroyo, S S; Scott, S S; Purayidom, A A; Concannon, P P; Lavin, M M; Gatti, R A RA