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Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
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Functional classification of ATM variants in Ataxia-Telangiectasia patients.
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Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
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Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
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Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect.