Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.R2522Q
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APOB

NM_000384.3:p.R2522Q

Associated Papers

Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

Guay SP et al.

Jcem Case Reports, 2024

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Coassin S et al.

Circulation. Genomic and Precision Medicine, 2022

35133173 (PubMed )
Supplement: hcg-15-e003489-s001.pdf

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX et al.

Journal of Translational Medicine, 2018

30526649 (PubMed )
Supplement: 12967_2018_1737_MOESM1_ESM.pdf

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

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › APOB
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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."