Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D569fs
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LDLR

NM_000527.5:p.D569fs

Associated Papers

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Kim H et al.

Journal of Atherosclerosis and Thrombosis, 2022

The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.

Shawar SM et al.

Atherosclerosis, 2012

Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.

Alonso R 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."