Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.Y344S
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ANGPTL3

NM_014495.4:p.Y344S

Associated Papers

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Levy M et al.

Atherosclerosis, 2025

Targeting angiopoietin-like 3 in atherosclerosis: From bench to bedside.

Ling P et al.

Diabetes, Obesity & Metabolism, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Biterova E et al.

Scientific Reports, 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

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

[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."