Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H1082fs
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ATM

NM_000051.4:p.H1082fs

Associated Papers

Germline variants in CDKN2A wild-type melanoma prone families.

Iversen GT et al.

Molecular Oncology, 2025

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Magnarelli A et al.

The Journal of Allergy and Clinical Immunology, 2025

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

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

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Rantapero T et al.

Genes, 2020

An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.

Borazanci E et al.

The Oncologist, 2020

A new ataxia-telangiectasia mutation in an 11-year-old female.

Mortaz E et al.

Immunogenetics, 2017

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
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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."