Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.E501_A502Splc
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PCSK9

NM_174936.4:p.E501_A502Splc

Associated Papers

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Huijgen R et al.

Human Mutation, 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."