Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R38S
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FGA

NM_021871.4:p.R38S

Associated Papers

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

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Variants leading to dysfibrinogenaemia in the fibrinogen α-chain at residue Arg19 are not solely associated with bleeding, but also with thrombotic events.

Bor MV

British Journal of Haematology, 2024

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.

Mohsenian S et al.

Blood Advances, 2024

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

Ramanan R et al.

British Journal of Haematology, 2023

[Analysis of gene mutation spectrum and pharmacokinetics of fibrinogen infusion in 146 cases of congenital fibrinogen disorders].

Huang LY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Gindele R et al.

Life (basel, Switzerland), 2021

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

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

Three-dimensional modeling of thrombin-fibrinogen interaction.

Rose T et al.

The Journal of Biological Chemistry, 2002

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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."