@misc{indiciae3690a46fb0ab, title = {Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy}, author = {Jessica X Chong and Viviana Caputo and Ian G Phelps and Lorenzo Stella and Lisa Worgan and Jennifer C Dempsey and Alina Nguyen and Vincenzo Leuzzi and Richard Webster and Antonio Pizzuti and Colby T Marvin and Gisele E Ishak and Simone Ardern-Holmes and Zara Richmond and Univ of Washington Center for Mendelian Genomics and Michael J Bamshad and Xilma R Ortiz-Gonzalez and Marco Tartaglia and Maya Chopra and Dan Doherty}, year = {2016}, doi = {10.1101/036111}, url = {https://www.biorxiv.org/content/10.1101/036111v1}, note = {Source identifier: 10.1101/036111} }