Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.P794insFs
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PMS2

NM_000535.7:p.P794insFs

Associated Papers

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

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

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.

Okkels H et al.

Genetic Testing and Molecular Biomarkers, 2019

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Sjursen W et al.

Journal of Medical Genetics, 2010

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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."