Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S142S
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LDLR

NM_000527.5:p.S142S

Associated Papers

Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Ferri N

Scientifica, 2012

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Allard D et al.

Human Mutation, 2005

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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."