Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R38G
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FGA

NM_021871.4:p.R38G

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

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

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

Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.

Bor MV et al.

Seminars in Thrombosis and Hemostasis, 2022

[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

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.

Castaman G et al.

European Journal of Haematology, 2019

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

Asselta R et al.

Thrombosis Research, 2015

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."