Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T250I
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SERPINC1

NM_000488.4:p.T250I

Associated Papers

Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

Orlando C et al.

Thrombosis and Haemostasis, 2025

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Vincent D et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

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

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Bravo-Pérez C et al.

American Journal of Hematology, 2022

SERPINC1 gene mutations in antithrombin deficiency.

Mulder R et al.

British Journal of Haematology, 2017

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 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."