Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.Y417C
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ANGPTL3

NM_014495.4:p.Y417C

Associated Papers

Target-stabilized base editors enable robust high-fidelity RNA editing.

Liu T et al.

Nature Communications, 2026

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

Biterova E et al.

Scientific Reports, 2018

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."