Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N1719fs
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ATM

NM_000051.4:p.N1719fs

Associated Papers

Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.

Viart NM et al.

Breast Cancer Research : Bcr, 2025

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Renault AL et al.

Breast Cancer Research : Bcr, 2022

Extended gene panel testing in lobular breast cancer.

van Veen EM et al.

Familial Cancer, 2022

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.

Thompson S et al.

Movement Disorders Clinical Practice, 2014

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