Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.E545V
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FGA

NM_021871.4:p.E545V

Associated Papers

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C et al.

Genes, 2025

40282368 (PubMed )
Supplement: genes-16-00408-s001.zip › genes-3515821-supplementary.pdf

Clinical manifestations, diagnosis and treatment of hereditary fibrinogen Aα-chain renal amyloidosis: one case report and systematic review.

He L et al.

International Urology and Nephrology, 2025

De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review.

Khaja T et al.

Canadian Journal of Kidney Health and Disease, 2023

Fibrinogen A Alpha-Chain Amyloidosis in Two Chinese Patients.

Li ZY et al.

Frontiers in Medicine, 2022

Fibrinogen A Alpha-Chain Amyloidosis Associated With a Novel Variant in a Chinese Family.

Jin S et al.

Kidney International Reports, 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

Renal amyloidosis: an update on diagnosis and pathogenesis.

Gupta N et al.

Protoplasma, 2020

Fibrinogen alpha amyloidosis: insights from proteomics.

Chapman J et al.

Expert Review of Proteomics, 2019

Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics.

Yazaki M et al.

International Journal of Molecular Sciences, 2018

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Paraboschi EM et al.

International Journal of Molecular Sciences, 2017

Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.

Tavares I et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2017

Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients.

Tavares I et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2017

Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First Report.

Tavares I et al.

Case Reports in Nephrology, 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

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 2013

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."