Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.I500del1
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MLH1

NM_000249.4:p.I500del1

Associated Papers

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Guan Y et al.

Scientific Reports, 2025

41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM2_ESM.xlsx › Sheet1

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53.

Brondani VB et al.

Cancers, 2020

Evaluation of MLH1 variants of unclear significance.

Köger N et al.

Genes, Chromosomes & Cancer, 2018

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

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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."