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Updated: May 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

Genetic variants associated with protein C levels.

C Y Vossen1, B P Koeleman, S J Hasstedt

  • 1Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands.

Journal of Thrombosis and Haemostasis : JTH
|February 8, 2013
PubMed
Summary

Researchers identified four genes at chromosome 5q14.1 that may influence normal protein C (PC) levels. BHMT2 is a likely candidate for regulating PC levels through homocysteine, impacting thrombin inhibition.

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