Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.E2414V
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APOB

NM_000384.3:p.E2414V

Associated Papers

Functional Analysis of 3'UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia.

Sanguino Otero J et al.

Human Mutation, 2024

Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.

Rodríguez-Jiménez C et al.

International Journal of Molecular Sciences, 2023

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

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."