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3 results on '"Teresa Santiago-Sim"'

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1. Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

2. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

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3. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders