RNA studies demonstrate that the LDLR c.2389+4A>G intronic variant causes familial hypercholesterolemia through an RNA splicing impact
Authors: Heather L. Zimmermann; Anthony Morise; Jesus Ramirez Castano; Nelly Abualkheir; Christina Bridges; Ginger J. Tsai; Amybeth Weaver; Rachid Karam