Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R379*
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F9

NM_000133.4:p.R379*

Associated Papers

The Template-Jumping Editing Approach in F9-Associated Hemophilia B Gene Therapy.

Sattarov R et al.

International Journal of Molecular Sciences, 2025

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Bach KQ et al.

Journal of Blood Medicine, 2025

Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B.

Mårtensson A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024

Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.

Wang W et al.

Frontiers in Pediatrics, 2024

F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B.

Liu G et al.

Blood, 2023

Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.

Kihlberg K et al.

Thrombosis Research, 2022

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

Inhibitor development in an elderly patient with severe factor IX deficiency being treated with ALPROLIX, a recombinant factor IX Fc fusion protein.

Comerford C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

Molecular characterization of hemophilia B patients in Colombia.

Parrado Jara YA et al.

Molecular Genetics & Genomic Medicine, 2020

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Manderstedt E et al.

Plos One, 2019

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population.

Lin XY et al.

International Journal of Laboratory Hematology, 2018

Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.

Zahari M et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2018

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A et al.

Blood, 2017

Risk factors associated with inhibitor development in Chinese patients with haemophilia B.

Zhou J et al.

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

[FⅨ gene all exons sequencing technology in hemophilia B gene carriers detection and the application of prenatal gene diagnosis].

Xiao X et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2013

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP et al.

Thrombosis and Haemostasis, 2013

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.

Mahajan A et al.

Human Mutation, 2007

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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."