Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C46F
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LDLR

NM_000527.5:p.C46F

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

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study.

Zambrano T et al.

International Journal of Clinical and Experimental Medicine, 2015

Influence of PCSK9 polymorphisms on plasma lipids and response to atorvastatin treatment in Brazilian subjects.

Anderson JM 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."