Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.Q805*
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PMS2

NM_000535.7:p.Q805*

Associated Papers

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

Sjursen W et al.

Hereditary Cancer in Clinical Practice, 2024

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 › PMS2

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Roht L et al.

Cancers, 2023

Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas.

Huelsman KM et al.

Journal of Personalized Medicine, 2021

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Wang D et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

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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."