Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D569insFs
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LDLR

NM_000527.5:p.D569insFs

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

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Kim JH et al.

Molecules and Cells, 2004

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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."