Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y1319_D1320insFs
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ATM

NM_000051.4:p.Y1319_D1320insFs

Associated Papers

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Petley E et al.

Plos One, 2022

35290391 (PubMed )
Supplement: pone.0264177.s005.xlsx › AFP

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.

Rodriguez RS et al.

Molecular Syndromology, 2021

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