Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R550H
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F8

NM_000132.4:p.R550H

Associated Papers

F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.

Lim MY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.

Srivastava V et al.

Biomolecules, 2025

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

Li F et al.

Frontiers in Genetics, 2023

Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A.

Inaba H et al.

International Journal of Hematology, 2022

Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.

Shinozawa K et al.

Thrombosis and Haemostasis, 2021

Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.

Strålfors A et al.

Thrombosis and Haemostasis, 2021

Clinical pattern of hemophilia and causes of variability.

Mingot-Castellano ME

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019

In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies.

Pezeshkpoor B et al.

Annals of Hematology, 2019

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

Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.

Loomans JI et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Principles of genetic variations and molecular diseases: applications in hemophilia A.

Lannoy N et al.

Critical Reviews in Oncology/hematology, 2016

Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements.

Trossaert M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.

Inaba H et al.

International Journal of Hematology, 2013

Origin of Swedish hemophilia A mutations.

Halldén C et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

Lannoy N et al.

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

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.

Trossaërt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.

Ma GC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.

Winter PC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.

Rudzki Z et al.

British Journal of Haematology, 1996

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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."