Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K453insFs
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MLH1

NM_000249.4:p.K453insFs

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

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Zhang M et al.

Hereditary Cancer in Clinical Practice, 2021

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Rashid MU et al.

Hereditary Cancer in Clinical Practice, 2019

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

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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."