Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Y2167*
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F8

NM_000132.4:p.Y2167*

Associated Papers

Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.

Zuccherato LW et al.

Research and Practice in Thrombosis and Haemostasis, 2025

41169533 (PubMed )
Supplement: mmc1.pdf

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

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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."