Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R1334P
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MSH6

NM_000179.3:p.R1334P

Associated Papers

A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.

Szabo E et al.

Human Mutation, 2025

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family.

Yang C et al.

Molecular Genetics & Genomic Medicine, 2023

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
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