Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.R44C
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FGB

NM_005141.5:p.R44C

Associated Papers

Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.

Cai Y et al.

Thrombosis and Haemostasis, 2025

Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice.

Mohsenian S et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.

Ramanan R et al.

British Journal of Haematology, 2023

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.

Castaman G et al.

European Journal of Haematology, 2019

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Tiscia GL et al.

International Journal of Molecular Sciences, 2018

Natural history of patients with congenital dysfibrinogenemia.

Casini A et al.

Blood, 2015

Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.

Shapiro SE et al.

British Journal of Haematology, 2013

Treatment of congenital fibrinogen disorders.

de Moerloose P et al.

Expert Opinion on Biological Therapy, 2008

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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."