Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2996Splc
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ATM

NM_000051.4:p.S2996Splc

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

Exley AR et al.

Clinical Immunology (orlando, Fla.), 2011

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K et al.

Human Mutation, 2000

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Telatar M et al.

American Journal of Human Genetics, 1998

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar M et al.

American Journal of Human Genetics, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."