Mobeen Nasir

A High-Throughput Programmatic Pipeline for Computational Reclassification of Variants of Uncertain Significance in LDLR: Structural Evidence for Disruption of the LDL-Receptor Class A Ligand-Binding Repeats

Familial hypercholesterolemia (FH) is a common autosomal-dominant disorder of lipoprotein metabolism, most frequently caused by loss-of-function variants in the low-density lipoprotein receptor gene (LDLR). Clinical genetic testing for FH is increasingly limited not by sequencing throughput but by interpretation throug...