Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R129*
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FGA

NM_021871.4:p.R129*

Associated Papers

The genetic spectrum of rare bleeding disorders.

Mohsenian S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.

Li Y et al.

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

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

Mohsenian S et al.

Blood Advances, 2024

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

Naz A et al.

Thrombosis Journal, 2017

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 2013

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia.

Tirefort Y et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012

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

The molecular basis of quantitative fibrinogen disorders.

Asselta R et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Molecular basis of fibrinogen deficiency.

Neerman-Arbez M

Pathophysiology of Haemostasis and Thrombosis, 2006

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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."