Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S131*
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MLH1

NM_000249.4:p.S131*

Associated Papers

Qualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2025

DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.

Walker R et al.

Gastroenterology, 2025

39788211 (PubMed )
Supplement: NIHMS2077496-supplement-1.xlsx › Supplementary_Table_2

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

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 › PMS2

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.

Hiljadnikova-Bajro M et al.

Croatian Medical Journal, 2012

Some aspects of molecular diagnostics in Lynch syndrome.

Kurzawski G

Hereditary Cancer in Clinical Practice, 2006

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G et al.

Clinical Genetics, 2006

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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."