Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H2887D
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ATM

NM_000051.4:p.H2887D

Associated Papers

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Jeddane L et al.

Neuromolecular Medicine, 2013

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV et al.

American Journal of Human Genetics, 2009

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Broeks A et al.

Breast Cancer Research and Treatment, 2008

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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."