Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.T331A
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FGA

NM_021871.4:p.T331A

Associated Papers

Congenital hypofibrinogenemia with bleeding risk: mutations in the FGA, FGB, and FGG genes.

Wu Y et al.

Laboratory Medicine, 2026

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Fibrinogen genotypes and their impact on recurrence of venous thromboembolism and family history: A prospective population-based study.

Memon AA et al.

British Journal of Haematology, 2025

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_1-xml.pdf

Clinical phenotype and laboratory characteristics of 93 patients with congenital fibrinogen disorders from unrelated 36 families.

Tian D et al.

Research and Practice in Thrombosis and Haemostasis, 2024

Genetic associations of protein-coding variants in venous thromboembolism.

He XY et al.

Nature Communications, 2024

Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency.

Singh S et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis.

Kramer RA et al.

International Journal of Molecular Sciences, 2023

Fibrinogen β chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism.

Klajmon A et al.

European Journal of Clinical Investigation, 2022

Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.

Bor MV et al.

Seminars in Thrombosis and Hemostasis, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

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

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Gindele R et al.

Life (basel, Switzerland), 2021

Fibrinogen BOE II: Intracerebral hemorrhage associated with a novel compound mutation in a Chinese family with dysfibrinogenemia.

Wang X et al.

Thrombosis Research, 2020

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

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

Naz A et al.

Thrombosis Journal, 2019

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Chyra Kufova Z et al.

Journal of Clinical Pathology, 2018

Protection From Pregnancy Loss in Women With Hereditary Thrombophilia When Associated With Fibrinogen Polymorphism Thr331Ala.

Ikejiri M et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Novel fibrinogen bbeta chain mutation as an underlying mechanism of afibrinogenemia?

Stanciakova L et al.

Seminars in Thrombosis and Hemostasis, 2015

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

[Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia].

Jiang M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

Lotta LA et al.

Bmc Medical Genomics, 2012

Gene variants associated with venous thrombosis: confirmation in the MEGA study.

Arellano AR et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant.

Tavares I et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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."