Chen, Lena; Choi, Catherine S.W.; Sanchez-Arias, Juan C.; Arbour, Laura T.; Swayne, Leigh Anne
(2019-11-21)
Ankyrin-B (AnkB) is scaffolding protein that anchors integral membrane proteins to the
cardiomyocyte cytoskeleton. We recently identified an AnkB variant, AnkB p.S646F (ANK2 c.1937 C>T) associated with a phenotype ranging ...