Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.N657delFs
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PMS2

NM_000535.7:p.N657delFs

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 › MSH2

Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Li Y et al.

Cancer Biology & Medicine, 2022

35638907 (PubMed )
Supplement: cbm-19-1235-s001.pdf

A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Hansen MF et al.

Molecular Genetics & Genomic Medicine, 2014

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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."