KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Journal Of Medical Genetics
Kapplinger, Jamie D JD; Erickson, Anders A; Asuri, Sirisha S; Tester, David J DJ; McIntosh, Sarah S; Kerr, Charles R CR; Morrison, Julie J; Tang, Anthony A; Sanatani, Shubhayan S; Arbour, Laura L; Ackerman, Michael J MJ