Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.I740fs
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MLH1

NM_000249.4:p.I740fs

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

A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.

Padua-Bracho A et al.

International Journal of Molecular Sciences, 2022

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."