Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G2000Splc
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F8

NM_000132.4:p.G2000Splc

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

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

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

Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

Zimmermann MA et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.

Castaman G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

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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."