Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N1719delFs
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ATM

NM_000051.4:p.N1719delFs

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

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

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

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M et al.

Clinical Neurology and Neurosurgery, 2020

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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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."