Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.R2444C
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APOB

NM_000384.3:p.R2444C

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx

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."