Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.A116T
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LIPG

NM_006033.4:p.A116T

Associated Papers

Genetic and structure-function studies of missense mutations in human endothelial lipase.

Razzaghi H et al.

Plos One, 2013

Not just genomewide association studies: rare variants in genes not identified through genomewide association studies also contribute to hypertriglyceridemia.

Evans D et al.

Circulation. Cardiovascular Genetics, 2012

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.

Edmondson AC et al.

The Journal of Clinical Investigation, 2009

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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."