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Whole Exome Sequencing,Familial Genomic Triangulation,and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2‐encoded TGF‐beta Activated Kinase 1 in a Child with Polyvalvular Syndrome |
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| Authors: | Jaeger P. Ackerman BA John A. Smestad BS David J. Tester BS Muhammad Y. Qureshi MBBS Beau A. Crabb MS CGC Nancy J. Mendelsohn MD Michael J. Ackerman MD PhD |
| Affiliation: | 1. Departments of Cardiovascular Diseases (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minn, USA;2. Mayo Clinic Medical Scientist Training Program, Rochester, Minn, USA;3. Department of Medical Genetics, Children's Hospital and Clinics of Minnesota, Minneapolis, Minn, USA |
| Abstract: | |
| Keywords: | Polyvalvular Syndrome Whole Exome Sequencing TAB2 |