Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R43W
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F9

NM_000133.4:p.R43W

Associated Papers

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

Bach KQ et al.

Journal of Blood Medicine, 2025

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.

Schmidt DE et al.

Thrombosis and Haemostasis, 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

The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single-institution case series.

Soffer E et al.

Pediatric Blood & Cancer, 2023

Comprehensive analysis of genotypes and phenotypes in 23 Chinese patients with hemophilia B: Identification of five novel variants.

Lu L et al.

International Journal of Laboratory Hematology, 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

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.

Kulkarni S et al.

Blood Research, 2021

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

Shinozawa K et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.

Gao W et al.

Blood Advances, 2020

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Katneni UK et al.

Molecular Genetics & Genomic Medicine, 2019

31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Khan MTM et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Molecular characterization of haemophilia B patients in southern Brazil.

Meireles MR et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B.

Kihlberg K et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.

Lyu C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.

Mårtensson A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

A gene-disease association study of IL18 in thyroid cancer: genotype and haplotype analyses.

Abdolahi F et al.

Endocrine, 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

The CDC Hemophilia B mutation project mutation list: a new online resource.

Li T et al.

Molecular Genetics & Genomic Medicine, 2013

24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List

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

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

Hamasaki-Katagiri N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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

Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers.

Khan MTM et al.

Pakistan Journal of Medical Sciences, 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."