Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G46V
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MSH6

NM_000179.3:p.G46V

Associated Papers

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Kim SR et al.

Cancer, 2020

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

Recurrent and founder mutations in the PMS2 gene.

Tomsic J et al.

Clinical Genetics, 2013

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Senter L et al.

Gastroenterology, 2008

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

Auclair J et al.

Human Mutation, 2007

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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."