Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.P12R
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PCSK9

NM_174936.4:p.P12R

Associated Papers

Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.

Bird M et al.

European Journal of Human Genetics : Ejhg, 2025

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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."