Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R168*
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FGA

NM_021871.4:p.R168*

Associated Papers

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Mohsenian S et al.

Blood Advances, 2024

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

[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

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 2013

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

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Neerman-Arbez M et al.

Human Genetics, 2001

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Neerman-Arbez M

Annals of the New York Academy of Sciences, 2001

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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."