Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K179_E180Splc
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PMS2

NM_000535.7:p.K179_E180Splc

Associated Papers

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis.

Amiot J et al.

The Journal of Molecular Diagnostics : Jmd, 2025

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

Sjursen W et al.

Hereditary Cancer in Clinical Practice, 2024

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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