Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R458C
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FGA

NM_021871.4:p.R458C

Associated Papers

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.

Zhang Z et al.

Communications Biology, 2025

40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf

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

Ramanan R et al.

British Journal of Haematology, 2023

The genetics of venous thromboembolism: a systematic review of thrombophilia families.

Zhang Y et al.

Journal of Thrombosis and Thrombolysis, 2021

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia.

Fernández-Cadenas I et al.

Journal of Atherosclerosis and Thrombosis, 2016

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

A new electrophoretic variant of fibrinogen associated with venous thromboembolism, fibrinogen Bordeaux Aalpha Arg439-->Cys.

Hanss M et al.

Journal of Thrombosis and Haemostasis : Jth, 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."