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ATM Gene Mutation Detection Techniques and Functional Analysis.
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Functional classification of ATM variants in Ataxia-Telangiectasia patients.
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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
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Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect.