Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q701_S702Splc
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MLH1

NM_000249.4:p.Q701_S702Splc

Associated Papers

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_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

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

Xavier A et al.

Molecular Genetics & Genomic Medicine, 2019

Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.

Zumstein V et al.

Swiss Medical Weekly, 2016

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Moreno-Ortiz JM et al.

Gastroenterology Research and Practice, 2016

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M et al.

Clinical Chemistry, 2008

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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."