Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R178*
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FGA

NM_021871.4:p.R178*

Associated Papers

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

Nóbrega T et al.

Journal of Thrombosis and Thrombolysis, 2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College 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

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S4.xlsx › Mutations_in_LCM_samples

Pseudohomozygous dysfibrinogenemia.

Peck RC et al.

Research and Practice in Thrombosis and Haemostasis, 2021

Liver transplantation as a novel strategy for resolution of congenital afibrinogenemia in a pediatric patient.

Corrales-Medina FF et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 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."