Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R282S
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APOA5

NM_001371904.1:p.R282S

Associated Papers

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

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 › Other_APO_genes

The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V.

Bertoccini L et al.

Lipids in Health and Disease, 2017

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Sidore C et al.

Nature Genetics, 2015

Standardized phenotyping enhances Mendelian disease gene identification.

Vissers LE et al.

Nature Genetics, 2015

Small island, big genetic discoveries.

Lettre G et al.

Nature Genetics, 2015

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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."