Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R226Splc
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MLH1

NM_000249.4:p.R226Splc

Associated Papers

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

The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Frostberg E et al.

Cancers, 2021

Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma.

Grant RC et al.

Gut, 2021

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Petersen SM et al.

Bmc Medical Genetics, 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."