Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.G271C
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APOA5

NM_001371904.1:p.G271C

Associated Papers

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

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

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Surendran RP et al.

Journal of Internal Medicine, 2012

Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.

Evans D et al.

Atherosclerosis, 2011

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."