Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E661K
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PMS2

NM_000535.7:p.E661K

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

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Chunn LM et al.

Frontiers in Genetics, 2020

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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."