Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R474delFs
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MLH1

NM_000249.4:p.R474delFs

Associated Papers

Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.

Altieri B et al.

Esmo Open, 2026

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

Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?

Sanchez de Abajo A et al.

Oncogene, 2006

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

Caldes T et al.

International Journal of Cancer, 2002

Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

Godino J et al.

Human Mutation, 2001

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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."