Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.K423fs
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MSH2

NM_000251.3:p.K423fs

Associated Papers

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.

Walker R et al.

Familial Cancer, 2023

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Pierre-Noël E et al.

Familial Cancer, 2022

Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.

Guillerm E et al.

European Journal of Human Genetics : Ejhg, 2020

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