Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.D2150H
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F8

NM_000132.4:p.D2150H

Associated Papers

Moderate X-chromosome inactivation skewing underlies factor VIII activity in symptomatic carriers from a family with mild haemophilia A.

Cygan PH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

Radic CP et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

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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."