Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D589H
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PMS2

NM_000535.7:p.D589H

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

39334433 (PubMed )
Supplement: 13053_2024_292_MOESM1_ESM.pdf

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E et al.

Scientific Reports, 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."