Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R549L
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PCSK9

NM_174936.4:p.R549L

Associated Papers

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM et al.

Circulation. Cardiovascular Genetics, 2016

27784735 (PubMed )
Supplement: 001545_supplemental_material.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."