Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E663D
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PMS2

NM_000535.7:p.E663D

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

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

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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