Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.C680C
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MLH1

NM_000249.4:p.C680C

Associated Papers

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 › MSH6

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

Shirts BH et al.

American Journal of Human Genetics, 2018

Analysis of human CD36 gene sequence alterations in the oxidized low-density lipoprotein-binding region using denaturing high-performance liquid chromatography.

Rać ME et al.

Genetic Testing and Molecular Biomarkers, 2010

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

Kurzawski G et al.

Journal of Medical Genetics, 2002

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.

Kurzawski G et al.

Journal of Biochemical and Biophysical Methods, 2002

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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."