Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D834Fs
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LDLR

NM_000527.5:p.D834Fs

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 characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.

Kim H et al.

Scientific Reports, 2020

33168860 (PubMed )
Supplement: 41598_2020_75901_MOESM1_ESM.pdf
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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."