Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.T45I
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MLH1

NM_000249.4:p.T45I

Associated Papers

Pilomatrix-like High-grade Endometrial Carcinoma: An Underdiagnosed Entity With Aggressive Clinicopathologic Features.

Zhou F et al.

The American Journal of Surgical Pathology, 2025

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.

Ten Broeke SW et al.

Gastroenterology, 2018

CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.

Ahadova A et al.

Familial Cancer, 2016

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Drost M et al.

Human Mutation, 2012

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Christensen LL et al.

Familial Cancer, 2009

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.

Christensen LL et al.

Bmc Medical Genetics, 2008

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR et al.

Nucleic Acids Research, 2004

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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."