Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R143fs
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APOA5

NM_001371904.1:p.R143fs

Associated Papers

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

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

Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.

De Castro-Orós I 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

Neurodegeneration in familial chylomicronemia syndrome.

Bashir B et al.

Journal of Clinical Lipidology, 0

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