Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.N222fs
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MLH1

NM_000249.4:p.N222fs

Associated Papers

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Repo PE et al.

Pigment Cell & Melanoma Research, 2025

Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.

Mathó C et al.

Frontiers in Oncology, 2025

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

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

Airaud F et al.

World Journal of Gastroenterology, 2012

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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."