Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.W253C
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FGG

NM_021870.3:p.W253C

Associated Papers

Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Jaraskova D et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors.

Bellacchio E

International Journal of Molecular Sciences, 2020

Natural history of patients with congenital dysfibrinogenemia.

Casini A et al.

Blood, 2015

[Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].

Jiang LL et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012

Identification of a novel splicing mutation in the fibrinogen Aalpha chain gene leading to hypofibrinogenaemia in a Chinese pedigree.

Chen H et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Rare inherited disorders of fibrinogen.

Acharya SS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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

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

Vu D et al.

Human Molecular Genetics, 2005

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

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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."