Mol Syndromol - A-T: Scientific and Medical Information

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A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
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