Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2169C
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F8

NM_000132.4:p.R2169C

Associated Papers

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

Inaba H et al.

International Journal of 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

Prediction of hemophilia A severity using a small-input machine-learning framework.

Lopes TJS et al.

Npj Systems Biology and Applications, 2021

34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports

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

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

A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.

Candy V et al.

Blood Advances, 2018

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.

Suzuki S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Inaba H et al.

Research and Practice in Thrombosis and Haemostasis, 2017

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

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

Silva Pinto C et al.

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

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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."