Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy (Q36802211)
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scientific article published on 29 March 2016
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English | Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy |
scientific article published on 29 March 2016 |
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy (English)
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University of Washington Center for Mendelian Genomics
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Viviana Caputo
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Ian G Phelps
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Lorenzo Stella
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Lisa Worgan
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Jennifer C Dempsey
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Alina Nguyen
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Vincenzo Leuzzi
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Richard Webster
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Colby T Marvin
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Gisele E Ishak
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Simone Ardern-Holmes
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Zara Richmond
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Michael J Bamshad
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Dan Doherty
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29 March 2016
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772-781
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