Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L296*
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MLH1

NM_000249.4:p.L296*

Associated Papers

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

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 › MLH1

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.

Xu T et al.

Frontiers in Oncology, 2020

Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.

Ow SGW et al.

Clinical Colorectal Cancer, 2019

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

Zhang J et al.

Oncotarget, 2017

28445943 (PubMed )
Supplement: oncotarget-08-24533-s001.pdf

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."