Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Q101L
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PCSK9

NM_174936.4:p.Q101L

Associated Papers

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Sun D et al.

Lipids in Health and Disease, 2018

Comparing expression and activity of PCSK9 in SPRET/EiJ and C57BL/6J mouse strains shows lack of correlation with plasma cholesterol.

Sirois F et al.

Molecular Genetics and Metabolism Reports, 2017

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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."