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An intronic mutation causes long QT syndrome.
Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I. Zhang L, et al. J Am Coll Cardiol. 2004 Sep 15;44(6):1283-91. doi: 10.1016/j.jacc.2004.06.045. J Am Coll Cardiol. 2004. PMID: 15364333 Free article.