Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R96H
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PCSK9

NM_174936.4:p.R96H

Associated Papers

Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

Humphries SE et al.

Clinical Chemistry, 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."