Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A684P
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LDLR

NM_000527.5:p.A684P

Associated Papers

The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.

Ten Kate GJ et al.

Atherosclerosis, 2013

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

van der Graaf A et al.

Circulation, 2011

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Huijgen R et al.

Human Mutation, 2010

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.

Sjouke B et al.

Journal of Clinical Lipidology, 0

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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."