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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCSK9

Variant:p.R218_Q219del1

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PCSK9

NM_174936.4:p.R218_Q219del1

hg38:chr1:55052407 GACA>G

Associated Papers

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Smyth N et al.

Current Opinion in Lipidology, 2018

29369830 (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."