Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.N338fs
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MLH1

NM_000249.4:p.N338fs

Associated Papers

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Rivero-García P et al.

Heliyon, 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

The repertoire of germline variants in patients with early-onset rectal cancer.

Beltrami CM et al.

Cancer Communications (london, England), 2022

35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Özdemir TR et al.

Balkan Medical Journal, 2019

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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."