Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q346_T347Splc
Back to variants list

MLH1

NM_000249.4:p.Q346_T347Splc

Associated Papers

Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation.

Joo JE et al.

Familial Cancer, 2025

40208414 (PubMed )
Supplement: 10689_2025_456_MOESM1_ESM.pdf

Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.

Guo Y et al.

The Oncologist, 2020

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Álvarez K et al.

Journal of Clinical Medicine, 2020

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

Rossi BM et al.

Bmc Cancer, 2017

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].

Wielandt AM et al.

Revista Medica De Chile, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."