Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
Chong, Jessica X, Caputo, Viviana, Phelps, Ian G, Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C, Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T, Ishak, Gisele E, Ardern-Holmes, Simone, Richmond, Zara, Univ Of Washington Center For Mendelian Genomics, Bamshad, Michael J, Ortiz-Gonzalez, Xilma R, Tartaglia, Marco, Chopra, Maya, Doherty, Dan
Published in bioRxiv (06.01.2016)
Published in bioRxiv (06.01.2016)
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