Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
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
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
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-2021-107886supp006.xlsx › MLH1
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
Pierre-Noël E et al.
Familial Cancer, 2022
A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.
Airaud F et al.
World Journal of Gastroenterology, 2012
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
Win AK et al.
Journal of Medical Genetics, 2011
Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.
Morak M et al.
European Journal of Gastroenterology & Hepatology, 2008
First report of a de novo germline mutation in the MLH1 gene.
Stulp RP et al.
World Journal of Gastroenterology, 2006
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