Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.E255G
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APOA5

NM_001371904.1:p.E255G

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

Whole Exome Sequencing in Monogenic Dyslipidemias.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2015

The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.

Talmud PJ et al.

Current Opinion in Lipidology, 2014

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.

Albers K et al.

Atherosclerosis, 2014

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

Mendoza-Barberá E et al.

Journal of Lipid Research, 2013

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Pisciotta L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

Charrière S et al.

Atherosclerosis, 2009

Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.

Dorfmeister B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008

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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."