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Ataxia Telangiectasia
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    Genetic

    • [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
    • A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
    • A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
    • Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
    • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
    • Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
    • Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.

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    Ataxia Telangiectasia
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