Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.H401Y
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SERPINC1

NM_000488.4:p.H401Y

Associated Papers

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Garrido-Rodríguez P et al.

Haematologica, 2026

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.

Kruijt M et al.

Mass Spectrometry Reviews, 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

High levels of latent antithrombin in plasma from patients with antithrombin deficiency.

de la Morena-Barrio M et al.

Thrombosis and Haemostasis, 2017

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Picard V et al.

Human Mutation, 2006

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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."