Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R2909G
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ATM

NM_000051.4:p.R2909G

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

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Petley E et al.

Plos One, 2022

35290391 (PubMed )
Supplement: pone.0264177.s005.xlsx › Consanguinuity

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Nakamura K et al.

Human Mutation, 2012

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

George Priya Doss C et al.

Plos One, 2012

Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.

Fukao T et al.

Human Mutation, 1998

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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."