Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.D251N
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APOA5

NM_001371904.1:p.D251N

Associated Papers

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

Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

Charrière S et al.

Atherosclerosis, 2009

Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.

Marçais C et al.

The Journal of Clinical Investigation, 2005

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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."