Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

Circ Arrhythm Electrophysiol. 2016 Jun;9(6):e004081. doi: 10.1161/CIRCEP.116.004081.

¹ From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.).
² From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.). [email protected].

No abstract available

Keywords: Jervell and Lange-Nielsen syndrome; KCNQ1; genetic testing; long QT syndrome; next-generation sequencing.

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