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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCSK9

Variant:p.G2D

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PCSK9

NM_174936.4:p.G2D

hg38:chr1:55039842 G>A

Associated Papers

Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.

Hegele RA

Genome, 2006

17426749 (PubMed )

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

Wang J et al.

Journal of Lipid Research, 2005

15576851 (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."