Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.G414S
Back to variants list

FGB

NM_005141.5:p.G414S

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype.

Simurda T et al.

International Journal of Molecular Sciences, 2020

FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.

Casini A et al.

Thrombosis Research, 2014

Two novel fibrinogen variants in the C-terminus of the Bβ-chain: fibrinogen Rokycany and fibrinogen Znojmo.

Kotlín R et al.

Journal of Thrombosis and Thrombolysis, 2010

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.

Vu D et al.

Haematologica, 2008

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.

Platé M et al.

Biochimica Et Biophysica Acta, 2007

Molecular basis of fibrinogen deficiency.

Neerman-Arbez M

Pathophysiology of Haemostasis and Thrombosis, 2006

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

Vu D et al.

Human Molecular Genetics, 2005

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."