Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.D660N
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PCSK9

NM_174936.4:p.D660N

Associated Papers

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.

Guerin A et al.

Cmaj Open, 0

37607748 (PubMed )
Supplement: open-2022-0108-2-at.pdf
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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."