CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic review
Cyclic AMP Responsive Element Binding Protein 3 Like 3 (CREB3L3 ) plays a crucial role in hepatic triglyceride (TAG) metabolism. Variants in CREB3L3 have been reported in individuals with hypertriglyceridemia (HTG). In this article we present a family from Punjab, Pakistan, with a rare heterozygous CREB3L3...