Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K43N
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LDLR

NM_000527.5:p.K43N

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5

Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lee C et al.

Lipids in Health and Disease, 2019

Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.

Cui Y et al.

Clinical Cardiology, 2019

Cysteine mutants of human apolipoprotein A-I: a study of secondary structural and functional properties.

Zhu X et al.

Journal of Lipid Research, 2005

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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."