Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Q1258*
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MSH6

NM_000179.3:p.Q1258*

Associated Papers

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

Lei H et al.

Human Genomics, 2024

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Jóri B et al.

Oncotarget, 2015

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

You JF et al.

British Journal of Cancer, 2010

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ et al.

American Journal of Human Genetics, 2002

DNA mismatch repair defects: role in colorectal carcinogenesis.

Jacob S et al.

Biochimie, 2002

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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."