Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R573C
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FGA

NM_021871.4:p.R573C

Associated Papers

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

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.

Zhang Z et al.

Communications Biology, 2025

40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf

Fibrinogen Bonn (p. Arg510Cys) in the Aα-Chain Is Associated with High Risk of Venous Thrombosis.

Ivaškevičius V et al.

Hamostaseologie, 2023

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

Ramanan R et al.

British Journal of Haematology, 2023

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Tiscia GL et al.

International Journal of Molecular Sciences, 2018

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 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."