Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.G315fs
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MSH2

NM_000251.3:p.G315fs

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

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Liu MH et al.

Biorxiv : the Preprint Server for Biology, 2023

36824744 (PubMed )
Supplement: media-3.xlsx › Suppl_Table_1_-_Samples

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

Cuatrecasas M et al.

Cancers, 2020

33003511 (PubMed )
Supplement: cancers-12-02803-s001.pdf

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Rashid MU et al.

Hereditary Cancer in Clinical Practice, 2019

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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."