Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E519G
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MLH1

NM_000249.4:p.E519G

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 › MLH1_data

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.

Okkels H et al.

Genetic Testing and Molecular Biomarkers, 2019

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