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Cancer Risk in ATM Heterozygotes: A Model of Phenotypic and Mechanistic Differences between Missense and Truncating Mutations

โœ Scribed by Richard A. Gatti; Aaron Tward; Patrick Concannon


Book ID
115639624
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
42 KB
Volume
68
Category
Article
ISSN
1096-7192

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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),