Functional and Computational Assessment of Missense Variants in the Ataxia-Telangiectasia Mutated (ATM) Gene: Mutations with Increased Cancer Risk

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 twelve missense variants in patients with mild forms of ataxia-telangiectasia (A-...

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Main Authors: Mitui, M, Nahas, SA, Du, LT, Yang, Z, Lai, CH, Nakamura, K, Arroyo, S, Scott, S, Purayidom, A, Concannon, P, Lavin, M, Gatti, RA
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2776735/
https://ncbi.nlm.nih.gov/pubmed/18634022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20805
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