Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q802*
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F8

NM_000132.4:p.Q802*

Associated Papers

A factor IX variant that functions independently of factor VIII mitigates the hemophilia A phenotype in patient plasma.

Strijbis VJF et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Guo Z et al.

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

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."