Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q295*
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APOA5

NM_001371904.1:p.Q295*

Associated Papers

The hidden burden of kidney damage in chylomicronemia syndromes.

D'Erasmo L et al.

Atherosclerosis, 2026

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

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.

Makhmudova U et al.

Journal of Medical Case Reports, 2024

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

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

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.

Dron JS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

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

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.

Forte TM et al.

Journal of Biomedical Research, 2016

Whole Exome Sequencing in Monogenic Dyslipidemias.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 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

Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.

Evans D et al.

Atherosclerosis, 2011

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

Buonuomo PS et al.

Journal of Clinical Lipidology, 0

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