Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P461S
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SERPINC1

NM_000488.4:p.P461S

Associated Papers

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

Kruijt M et al.

Mass Spectrometry Reviews, 2025

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

Kruijt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.

Kállai J et al.

International Journal of Molecular Sciences, 2024

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Bravo-Pérez C et al.

Jci Insight, 2022

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

de la Morena-Barrio M et al.

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."