Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.E206K
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PCSK9

NM_174936.4:p.E206K

Associated Papers

Associations Between Soluble LDLR and Lipoproteins in a White Cohort and the Effect of PCSK9 Loss-of-Function.

Mayne J et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Mayne J et al.

Lipids in Health and Disease, 2013

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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."