Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L564_I565delFs
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MLH1

NM_000249.4:p.L564_I565delFs

Associated Papers

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_

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

New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.

Sahin I et al.

Genetic Testing and Molecular Biomarkers, 2022

Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.

de Paula AE et al.

Cancer Genetics, 2021

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

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M et al.

Clinical Chemistry, 2008

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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."