Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.V717fs
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MSH6

NM_000179.3:p.V717fs

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.

Aguilar D et al.

Jco Global Oncology, 2025

Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.

Francis RA et al.

Cancer Research Communications, 2024

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Li CY et al.

Translational Pediatrics, 2024

Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.

van der Werf-'t Lam AS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Utility of immunohistochemistry for mismatch repair proteins on colorectal polyps in the familial cancer clinic.

Dow E et al.

Internal Medicine Journal, 2018

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Hirasawa A et al.

Oncotarget, 2017

Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.

Pagin A et al.

British Journal of Cancer, 2013

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

Pritchard CC et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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