Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL4
Variant:p.E167K
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ANGPTL4

NM_139314.3:p.E167K

Associated Papers

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Rosenson RS et al.

Nature Medicine, 2023

36879129 (PubMed )
Supplement: 41591_2023_2222_MOESM1_ESM.pdf

A subregion-based burden test for simultaneous identification of susceptibility loci and subregions within.

Zhu B et al.

Genetic Epidemiology, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing Study.

Lin WY

Scientific Reports, 2016

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Ionita-Laza I et al.

Plos Genetics, 2014

Phylogenetics applied to genotype/phenotype association and selection analyses with sequence data from angptl4 in humans.

Maxwell TJ et al.

International Journal of Molecular Sciences, 2010

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

Romeo S et al.

The Journal of Clinical Investigation, 2009

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

Romeo S et al.

Nature Genetics, 2007

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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."