Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D834fs
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LDLR

NM_000527.5:p.D834fs

Associated Papers

LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.

Bogsrud MP et al.

European Heart Journal, 2025

41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf

2022 Consensus statement on the management of familial hypercholesterolemia in Korea.

Lee CJ et al.

The Korean Journal of Internal Medicine, 2022

2022 Consensus Statement on the Management of Familial Hypercholesterolemia in Korea.

Lee CJ et al.

Journal of Lipid and Atherosclerosis, 2022

Role of Genetics in Preventive Cardiology: Focused on Dyslipidemia.

Lee SH

Korean Circulation Journal, 2021

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea.

Lee SH

Journal of Atherosclerosis and Thrombosis, 2016

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Han SM et al.

Plos One, 2015

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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."