Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.R401W
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FGG

NM_021870.3:p.R401W

Associated Papers

Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.

Cai Y et al.

Thrombosis and Haemostasis, 2025

Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Implications of the c.1201C > G (p.Arg401Gly) mutation in FGG gene on fibrinogen stability and function.

Lu J et al.

Frontiers in Medicine, 2025

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.

Mohsenian S et al.

Blood Advances, 2024

Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.

Ramanan R et al.

British Journal of Haematology, 2023

[Clinicopathological features of hepatic fibrinogen storage disease in children].

Fang Y et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 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

Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.

Yoda M et al.

International Journal of Hematology, 2021

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

Hereditary Hypofibrinogenemia with Hepatic Storage.

Asselta R et al.

International Journal of Molecular Sciences, 2020

Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report.

Gu L et al.

The Journal of International Medical Research, 2020

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

Can the phenotype of inherited fibrinogen disorders be predicted?

Casini A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.

Zhang MH et al.

Bmc Gastroenterology, 2016

Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.

Casini A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 2013

High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension.

Morris TA et al.

Blood, 2009

Treatment of congenital fibrinogen disorders.

de Moerloose P et al.

Expert Opinion on Biological Therapy, 2008

Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins.

Vu D et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.

Francalanci P et al.

The Journal of Pediatrics, 2006

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

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.

Al-Hussaini A et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."