Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E626delFs
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LDLR

NM_000527.5:p.E626delFs

Associated Papers

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Cuchel M et al.

Journal of the American Heart Association, 2023

37119068 (PubMed )
Supplement: JAH3-12-e029175-s001.pdf

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

Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia.

Cuchel M et al.

The New England Journal of Medicine, 2007

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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."