Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E288K
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APOE

NM_000041.4:p.E288K

Associated Papers

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.

Gratton J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

37409534 (PubMed )
Supplement: atv-43-1737-s001.pdf

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Heidemann BE et al.

Clinical Genetics, 2022

35781703 (PubMed )
Supplement: CGE-102-253-s001.docx

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Benito-Vicente A et al.

International Journal of Molecular Sciences, 2018

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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."