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Functional classification of ATM variants in ataxia‐telangiectasia patients

3 May 2019

Abstract excerpt

Ataxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their...

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PMID: 31050087
DOI: 10.1002/humu.23778

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