Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.M2836V
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ATM

NM_000051.4:p.M2836V

Associated Papers

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

Carney EF et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

Exley AR et al.

Clinical Immunology (orlando, Fla.), 2011

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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."