Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L1354Q
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MSH6

NM_000179.3:p.L1354Q

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H et al.

Journal of Biomedical Science, 2013

Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

Wielders EA et al.

Plos One, 2013

Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

Belvederesi L et al.

Familial Cancer, 2012

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Kantelinen J et al.

Human Mutation, 2012

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

MSH6 missense mutations are often associated with no or low cancer susceptibility.

Kariola R et al.

British Journal of Cancer, 2004

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R et al.

Human Genetics, 2003

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