Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.R476W
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LIPG

NM_006033.4:p.R476W

Associated Papers

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN et al.

Journal of Lipid Research, 2015

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics.

Larach DB et al.

Clinical Lipidology, 2013

The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans.

Singaraja RR et al.

Circulation. Cardiovascular Genetics, 2013

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

Razzaghi H et al.

Plos One, 2013

Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

Tietjen I et al.

Plos One, 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."