Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.D485H
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MLH1

NM_000249.4:p.D485H

Associated Papers

Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.

Li F et al.

Molecular Genetics & Genomic Medicine, 2020

Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Zhu M et al.

Oncology Letters, 2013

Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.

Li D et al.

Plos One, 2013

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.

Wei W et al.

Journal of Bioinformatics and Computational Biology, 2010

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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."