Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.S292P
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ANGPTL3

NM_014495.4:p.S292P

Associated Papers

Structures of Angptl3 and Angptl4, modulators of triglyceride levels and coronary artery disease.

Biterova E et al.

Scientific Reports, 2018

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

Stitziel NO et al.

Journal of the American College of Cardiology, 2017

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

Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus.

Wang X et al.

Atherosclerosis, 2015

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

[Hallervorden-Spatz familial dystonia apropos of a family in which 3 brothers are afflicted. Diagnostic and genetic discussion].

Cruz-Marin F et al.

Journal De Genetique Humaine, 1981

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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."