Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.S393P
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F10

NM_000504.4:p.S393P

Associated Papers

Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain.

Todd T et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

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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."