Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E663G
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PMS2

NM_000535.7:p.E663G

Associated Papers

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB et al.

Elife, 2019

31697235 (PubMed )
Supplement: elife-49138-table1-data1.xlsx › Sheet1

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Kosinski J et al.

Human Mutation, 2010

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

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