Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K688E
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MLH1

NM_000249.4:p.K688E

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › Replicate_correlation

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Christensen LL et al.

Familial Cancer, 2009

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.

Christensen LL et al.

Bmc Medical Genetics, 2008

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