Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R143delFs
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APOA5

NM_001371904.1:p.R143delFs

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

Severe Familial Hypertriglyceridemia in a Child with Compound Heterozygous Pathogenic APOA5 Variants: A Case Report and Therapeutic Challenge.

Ilić N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-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

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

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

Cefalù AB et al.

Journal of Clinical Lipidology, 0

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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