Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.R301C
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FGG

NM_021870.3:p.R301C

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

Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization.

Huang J et al.

Clinical Biochemistry, 2026

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

Cai Y et al.

Thrombosis and Haemostasis, 2025

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

The genetic spectrum of rare bleeding disorders.

Mohsenian S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Congenital Fibrinogen Deficiencies: Not So Rare.

Couzens A et al.

Hamostaseologie, 2025

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database.

Mohsenian S et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Molecular Aspects of Rare Coagulation Factor Deficiencies.

Tourbih H et al.

Cureus, 2025

[Clinical characteristics and genotypes of patients with Congenital fibrinogen disorders].

Wang H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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

Mohsenian S et al.

Blood Advances, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

De Mazancourt P et al.

International Journal of Molecular Sciences, 2023

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

A series of Polish patients with congenital fibrinogen disorders: 2 new mutations in fibrinogen gamma chain, Fibrinogen Kostrzyn and Fibrinogen Łódź II.

Weronska A et al.

Polish Archives of Internal Medicine, 2022

[Pedigree Analysis and Diagnosis of Congenital Dysfibrinogenemia: A Case Report].

Luo J et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2022

Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders.

Mohsenian S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

A novel fibrinogen γ-chain frameshift mutation, p. Cys365Phefs*41, causing hypofibrinogenemia with bleeding phenotype in a Chinese family.

Zhou W et al.

Annals of Translational Medicine, 2021

[Analysis of gene mutation spectrum and pharmacokinetics of fibrinogen infusion in 146 cases of congenital fibrinogen disorders].

Huang LY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

[Congenital Fibrinogen Deficiency Caused by Novel FGG Gene Mutation].

Wang TT et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2021

Congenital Fibrinogen Deficiency in India and Role of Human Fibrinogen Concentrate.

John MJ et al.

Acta Haematologica, 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

From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders.

Casini A

Hamostaseologie, 2020

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.

Castaman G et al.

European Journal of Haematology, 2019

Clot waveform analysis in Clauss fibrinogen assay contributes to classification of fibrinogen disorders.

Suzuki A et al.

Thrombosis Research, 2019

Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius).

Alshanbari F et al.

Frontiers in Genetics, 2019

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A et al.

Thrombosis and Haemostasis, 2018

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.

Ali SK et al.

Journal of Biomolecular Structure & Dynamics, 2017

Fibrin clot structure in patients with congenital dysfibrinogenaemia.

Casini A et al.

Thrombosis Research, 2016

Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia.

Zhou J et al.

Blood Cells, Molecules & Diseases, 2015

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.

Casini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Natural history of patients with congenital dysfibrinogenemia.

Casini A et al.

Blood, 2015

Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.

Shapiro SE et al.

British Journal of Haematology, 2013

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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."