Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G2022D
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F8

NM_000132.4:p.G2022D

Associated Papers

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

Shinozawa K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

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

Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.

Janczar S et al.

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

Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).

Ershov VI et al.

Terapevticheskii Arkhiv, 2018

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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."