Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.E275*
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FGG

NM_021870.3:p.E275*

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

A novel pathogenic variant in the fibrinogen gamma chain gene p.Glu275Lys causes congenital hypofibrinogenemia.

Drotarova M et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2025

[Advances in the genetics of venous thromboembolic disease].

Xia YQ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

Simurda T et al.

Journal of Thrombosis and Thrombolysis, 2020

Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+23T>A substitution and a previously reported FGB IVS6-10_16delTTTG deletion.

Amri Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020

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