Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R161*
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SERPINC1

NM_000488.4:p.R161*

Associated Papers

Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene.

Wei X et al.

Thrombosis Journal, 2025

Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution.

Marco-Rico A et al.

Journal of Blood Medicine, 2023

Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.

Reda S et al.

International Journal of Molecular Sciences, 2021

Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.

Baiges A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Incidence and features of thrombosis in children with inherited antithrombin deficiency.

de la Morena-Barrio B et al.

Haematologica, 2019

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Navarro-Fernández J et al.

Oncotarget, 2018

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

Puurunen M et al.

Journal of Thrombosis and Haemostasis : Jth, 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."