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E.E. Davis, J.H. Savage, J.R. Willer, Y.-H. Jiang, M. Angrist, A. Androutsopoulos and N. Katsanis Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT Clinical Genetics 85

Article first published online: 5 JUN 2013 | DOI: 10.1111/cge.12189

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