Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.M2143_V2144Splc
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F8

NM_000132.4:p.M2143_V2144Splc

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

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repessé Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1977

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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."