Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.I25F
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MLH1

NM_000249.4:p.I25F

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

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

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

Ali H et al.

Human Mutation, 2012

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.

Wanat JJ et al.

Human Molecular Genetics, 2007

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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."