Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S459*
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MLH1

NM_000249.4:p.S459*

Associated Papers

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Actionable_findings

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 Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Sidenna M et al.

Genes, 2022

36421850 (PubMed )
Supplement: genes-13-02176-s001.zip › Table_S1.pdf

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

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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."