Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M1insFs
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MSH2

NM_000251.3:p.M1insFs

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

Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.

Hosseini S et al.

Annals of Surgical Oncology, 2023

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

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

Jung YJ et al.

Hereditary Cancer in Clinical Practice, 2021

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

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Thompson BA et al.

Human Mutation, 2013

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Pagenstecher C et al.

Human Genetics, 2006

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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."