Article
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Human mutation - 1 Jan 2009
Mitui M, Nahas S A, Du L T, Yang Z, Lai C H, Nakamura K, Arroyo S, Scott S, Purayidom A, Concannon P, Lavin M, Gatti R A
Abstract excerpt
The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.