Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.W2491R
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ATM

NM_000051.4:p.W2491R

Associated Papers

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

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."