Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R458_A459delFs
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LDLR

NM_000527.5:p.R458_A459delFs

Associated Papers

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.

Marmontel O et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Painful and recurring injection site reaction to alirocumab and evolocumab in a young woman with familial hypercholesterolemia and effective therapeutic alternative based on inclisiran: a case report.

Allevi M et al.

Frontiers in Cardiovascular Medicine, 2023

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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."