Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Y721*
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MLH1

NM_000249.4:p.Y721*

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

Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.

Serrano M et al.

Familial Cancer, 2012

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.

Fidalgo P et al.

European Journal of Human Genetics : Ejhg, 2000

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