Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.D588V
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F8

NM_000132.4:p.D588V

Associated Papers

Incidental finding of a common polymorphism (Asp1260Glu) and a previously unreported mutation of factor VIII (Asp588Val), resulting in moderate haemophilia A.

Williams V et al.

Pathology, 2012

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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."