Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A627fs
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LDLR

NM_000527.5:p.A627fs

Associated Papers

Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Hindi NN et al.

Journal of Personalized Medicine, 2021

ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report.

Reeskamp LF et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Oommen D et al.

Frontiers in Genetics, 2020

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Banerjee P et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

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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."