Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R472delFs
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MLH1

NM_000249.4:p.R472delFs

Associated Papers

Pitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma.

Flaus A et al.

Pathology, Research and Practice, 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

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Morak M et al.

European Journal of Human Genetics : Ejhg, 2019

Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.

Rahner N et al.

Acta Oncologica (stockholm, Sweden), 2007

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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."