Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D25D
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LDLR

NM_000527.5:p.D25D

Associated Papers

LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach.

de Freitas RCC et al.

Molecular Biology Reports, 2023

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Huijgen R et al.

Human Mutation, 2012

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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."