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A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
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Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
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Clinical variability in ataxia-telangiectasia.
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Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
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Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.
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Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.