Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R127Splc
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MLH1

NM_000249.4:p.R127Splc

Associated Papers

Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.

Hallquist MLG et al.

Jnci Cancer Spectrum, 2025

40498571 (PubMed )
Supplement: pkaf061_supplementary_data.xlsx › STable1_Individual_Case_Details

Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.

Lee NY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.

Pantaleo A et al.

Cancers, 2023

Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies.

Sarode VR et al.

Archives of Pathology & Laboratory Medicine, 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.

Lee SC et al.

Clinical Genetics, 2005

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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."