Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K444delFs
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F8

NM_000132.4:p.K444delFs

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

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Atik T et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020

Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.

Khanum F et al.

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

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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."