Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.L1462P
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F8

NM_000132.4:p.L1462P

Associated Papers

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Ogata K et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function.

Markoff A et al.

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

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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."