Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R343C
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APOA5

NM_001371904.1:p.R343C

Associated Papers

Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

41099101 (PubMed )
Supplement: atv-45-2264-s001.pdf

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › Other_APO_genes

Whole Exome Sequencing in Monogenic Dyslipidemias.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2015

Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism.

Forte TM et al.

Current Drug Targets, 2015

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24886863 (PubMed )
Supplement: pone.0099721.s001.pdf
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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."