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Structural analysis of de novo STXBP1 mutation in complex with syntaxin 1A reveals a major alteration in the interaction interface in a child with developmental delay and spasticity

2019-05-20

Abstract excerpt

STXBP1, also known as Munc-18, is a master regulator of neurotransmitter release and synaptic function in the human brain through its direct interaction with syntaxin 1A. STXBP1 related disorders are well characterized and cover a diverse range of neurological and neurodevelopmental conditions. Through exome sequencing of a child with developmental delay, hypotonia and spasticity, we found a novel de novo inserti...

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Literature Corpus work: 97a8a4d9-362d-5a5f-a940-25a102b63cbe
DOI: 10.1101/642702

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