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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCSK9

Variant:p.G384G

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PCSK9

NM_174936.4:p.G384G

hg38:chr1:55057486 G>C

Associated Papers

Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.

Adolfsson E et al.

Atherosclerosis Plus, 2025

39802654 (PubMed )

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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."