Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S397L
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SERPINC1

NM_000488.4:p.S397L

Associated Papers

Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.

Corral J et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.

Kruijt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.

Cifuentes R et al.

International Journal of Molecular Sciences, 2023

36902454 (PubMed )
Supplement: ijms-24-05023-s001.zip › ijms-2244324-supplementary.pdf

The genetics of antithrombin.

Corral J et al.

Thrombosis Research, 2018

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