Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S362F
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MLH1

NM_000249.4:p.S362F

Associated Papers

Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.

Duchnowska R et al.

Scientific Reports, 2022

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 › MLH1

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

Morak M et al.

Journal of Medical Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."