long QT syndrome

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
Jamie D Kapplinger, Anders Erickson, Sirisha Asuri, David J Tester, Sarah McIntosh, Charles R Kerr, Julie Morrison, Anthony Tang, Shubhayan Sanatani, Laura Arbour, Michael J Ackerman

Journal of Medical Genetics Jun 2017, 54 (6) 390-398; DOI: 10.1136/jmedgenet-2016-104153

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long QT syndrome