Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A18T
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LDLR

NM_000527.5:p.A18T

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

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.

Zhao HL et al.

Lipids in Health and Disease, 2024

38616260 (PubMed )
Supplement: 12944_2024_2101_MOESM2_ESM.xls › Sheet1

Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.

Dagli-Hernandez C et al.

Pharmacological Reports : Pr, 2022

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.

López G et al.

Atherosclerosis, 2018

Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.

Molfetta GA et al.

Genetics and Molecular Research : Gmr, 2017

Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.

De Castro-Orós I et al.

Plos One, 2016

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Cymbron T et al.

Meta Gene, 2014

Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.

van Zyl T et al.

Journal of Human Genetics, 2014

Low-density lipoprotein receptor variants are associated with spontaneous and treatment-induced recovery from hepatitis C virus infection.

Mas Marques A et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2009

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Tamayo ML et al.

Genetic Counseling (geneva, Switzerland), 2008

Influence of exonic polymorphisms in the gene for LDL receptor-related protein (LRP) on risk of coronary artery disease.

Pocathikorn A et al.

Atherosclerosis, 2003

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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."