Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.L205P
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SERPINC1

NM_000488.4:p.L205P

Associated Papers

Clinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.

Chongxia Z et al.

Thrombosis Journal, 2025

Mechanism of antithrombin deficiency due to the novel variant C32W in the C-terminus of the signal peptide.

Kikuchi Y et al.

International Journal of Hematology, 2025

Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics.

Imai Y et al.

Thrombosis Research, 2023

Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.

Gindele R et al.

Biomolecules, 2021

Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.

Gindele R et al.

Thrombosis Research, 2017

Antithrombin Debrecen (p.Leu205Pro) - Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency.

Selmeczi A et al.

Thrombosis Research, 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."