Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.G444S
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FGB

NM_005141.5:p.G444S

Associated Papers

Genetic and clinical characterization of congenital fibrinogen disorders in ten Polish patients: identification of three new variants - Fibrinogen Gdańsk II (FGB c.749A>G), Fibrinogen Gdańsk III (FGG c.246dupA) and Fibrinogen Toruń (FGB c.270delT).

Ochotnicka J et al.

Polish Archives of Internal Medicine, 2026

Three new variants of the fibrinogen-related domain of the fibrinogen Bβ chain.

Kotlín R et al.

Thrombosis Research, 2025

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

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

Casini A et al.

Thrombosis Research, 2014

Molecular basis of quantitative fibrinogen disorders in 27 patients from India.

Sumitha E et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

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

Vu D et al.

Haematologica, 2008

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

Molecular basis of fibrinogen deficiency.

Neerman-Arbez M

Pathophysiology of Haemostasis and Thrombosis, 2006

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu D et al.

Journal of Medical Genetics, 2005

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

Vu D et al.

Blood, 2003

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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."