“Genetic Variation in APOA5 Gene and Severe Hypertriglyceridemia: Current Understanding and Future Research”

https://pubmed.ncbi.nlm.nih.gov/38117614

Genetic variation in the APOA5 gene, particularly loss-of-function variants, is associated with highly variable levels of severe hypertriglyceridemia, but the mechanisms of pathogenicity for most missense variants are unclear and require further study.