Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

• Yuji Nakamura,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – original draft

  Affiliation Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan

  http://orcid.org/0000-0002-6531-9018

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• Kohji Kato,

  Roles Investigation, Methodology, Writing – review & editing

  Affiliations Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

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• Naomi Tsuchida,

  Roles Conceptualization, Resources, Writing – review & editing

  Affiliation Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

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• Naomichi Matsumoto,

  Roles Conceptualization, Funding acquisition, Resources, Writing – review & editing

  Affiliation Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

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• Yoshiyuki Takahashi,

  Roles Conceptualization, Funding acquisition, Writing – review & editing

  Affiliation Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

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• Shinji Saitoh

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Writing – original draft, Writing – review & editing

  * E-mail: ss11@med.nagoya-cu.ac.jp

  Affiliation Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan

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