Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern-Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz-Gonzalez, Marco Tartaglia, Maya Chopra, Dan Doherty

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