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mutation

  • [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].

  • A new ataxia-telangiectasia mutation in an 11-year-old female.

  • A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

  • New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

  • Novel ATM mutations with ataxia-telangiectasia.

  • Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.

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