Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.F154_F155del1
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SERPINC1

NM_000488.4:p.F154_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

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.

Zhang Z et al.

Communications Biology, 2025

40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf

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

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.

Wang D et al.

Frontiers of Medicine, 2018

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q et al.

Thrombosis Research, 2013

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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."