Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.F155del1
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SERPINC1

NM_000488.4:p.F155del1

Associated Papers

Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations.

Lu J et al.

Thrombosis Journal, 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

Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism.

Halvorsen M et al.

Ebiomedicine, 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."