Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R359I
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MSH2

NM_000251.3:p.R359I

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Three cases of colon cancer in four generations of the Saudi family, caused by endogamous germline mutations.

Alshaya DS et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2023

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.

Singh S et al.

Biotechnology and Applied Biochemistry, 2022

Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Yang RK et al.

Cancers, 2022

36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1
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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."