Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.W474*
Back to variants list

FGB

NM_005141.5:p.W474*

Associated Papers

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.

Chen W et al.

Thrombosis Journal, 2025

Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders.

Casini A et al.

Seminars in Thrombosis and Hemostasis, 2025

Proteomic analysis of small extracellular vesicles from the plasma of patients with hepatocellular carcinoma.

Dong W et al.

World Journal of Surgical Oncology, 2022

36471393 (PubMed )
Supplement: 12957_2022_2849_MOESM4_ESM.xlsx › enrichment.PMID

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.

Brunclikova M et al.

Journal of Clinical Medicine, 2022

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

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype.

Simurda T et al.

Biomedicines, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."