Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K157R
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SERPINC1

NM_000488.4:p.K157R

Associated Papers

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

Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.

Reda S et al.

International Journal of Molecular Sciences, 2021

Defects of splicing in antithrombin deficiency.

de la Morena-Barrio ME et al.

Research and Practice in Thrombosis and Haemostasis, 2017

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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."