Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R35C
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FGA

NM_021871.4:p.R35C

Associated Papers

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

Cai Y et al.

Thrombosis and Haemostasis, 2025

The genetic spectrum of rare bleeding disorders.

Mohsenian S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Congenital Fibrinogen Deficiencies: Not So Rare.

Couzens A et al.

Hamostaseologie, 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

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

Mohsenian S et al.

Blood Advances, 2024

Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia.

Simurda T et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2024

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders.

Mohsenian S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

Pseudohomozygous dysfibrinogenemia.

Peck RC et al.

Research and Practice in Thrombosis and Haemostasis, 2021

[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

Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population.

Wan Y et al.

Journal of Thrombosis and Thrombolysis, 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

Venous Thrombosis and Thrombocyte Activity in Zebrafish Models of Quantitative and Qualitative Fibrinogen Disorders.

Fish RJ et al.

International Journal of Molecular Sciences, 2021

Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.

Liu JJ et al.

Cancer Medicine, 2020

33017516 (PubMed )
Supplement: CAM4-9-8243-s003.xlsx › WES_filtered_by_FIREVAT

Hereditary Hypofibrinogenemia with Hepatic Storage.

Asselta R et al.

International Journal of Molecular Sciences, 2020

Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report.

Gu L et al.

The Journal of International Medical Research, 2020

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.

Castaman G et al.

European Journal of Haematology, 2019

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

Abnormal fibrinogen with an Aα 16Arg → Cys substitution is associated with multiple cerebral infarctions.

Luo M et al.

Journal of Thrombosis and Thrombolysis, 2018

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.

Smith N et al.

Research and Practice in Thrombosis and Haemostasis, 2018

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Paraboschi EM et al.

International Journal of Molecular Sciences, 2017

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.

Casini A et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.

Vorjohann S et al.

Thrombosis and Haemostasis, 2010

Treatment of congenital fibrinogen disorders.

de Moerloose P et al.

Expert Opinion on Biological Therapy, 2008

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.

Neerman-Arbez M et al.

Human Mutation, 2007

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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."