Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K1290delFs
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F8

NM_000132.4:p.K1290delFs

Associated Papers

Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.

Kentsis A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

Bogdanova N et al.

Human Mutation, 2002

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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."