Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R294*
Back to variants list

F9

NM_000133.4:p.R294*

Associated Papers

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

Sattarov R et al.

International Journal of Molecular Sciences, 2025

Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.

Karimi F et al.

Journal of Thrombosis and Thrombolysis, 2025

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

Bach KQ et al.

Journal of Blood Medicine, 2025

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 inhibitors in haemophilia B: A report of National Haemophilia Registry in China.

Dou X et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Li F et al.

Frontiers in Genetics, 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

The Molecular Basis of FIX Deficiency in Hemophilia B.

Shen G et al.

International Journal of Molecular Sciences, 2022

Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.

Agrawal N et al.

International Journal of Laboratory Hematology, 2022

Genetic analysis of carrier status in female members of Japanese hemophilia families.

Shinozawa K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.

El-Kamah GY et al.

Journal, Genetic Engineering & Biotechnology, 2021

High resolution melting for F9 gene mutation analysis in patients with haemophilia B.

Salviato R et al.

Blood Transfusion = Trasfusione Del Sangue, 2019

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

Branchini A et al.

Blood, 2017

Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.

Al-Allaf FA et al.

Journal of Clinical Medicine Research, 2017

Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay.

Boylan B et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

A genetic analysis of 23 Chinese patients with hemophilia B.

Wang QY et al.

Scientific Reports, 2016

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of Thrombosis and Haemostasis : Jth, 2015

25851415 (PubMed )
Supplement: JTH-13-1184-s001.docx

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

Factor IX mutations in hemophilia B patients from Liaoning Province, China.

Cao DH et al.

International Journal of Laboratory Hematology, 2014

Mutation analysis of a cohort of US patients with hemophilia B.

Li T et al.

American Journal of Hematology, 2014

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

Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.

Pinotti M et al.

Human Mutation, 2012

Successful treatment of an injury bleeding on a patient suffering from mild von Willebrand's disease and predisposition to allergic diseases, with recombinant factor VIIA.

Alesci S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

Identification of novel and recurrent mutations in Tunisian haemophilia B patients.

Elmahmoudi H et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

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

Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.

Owaidah T et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."