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De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
Banne E, Falik-Zaccai T, Brielle E, Kalfon L, Ladany H, Klinger D, Schneidman-Duhovny D, Linial M. Banne E, et al. Among authors: klinger d. Am J Med Genet B Neuropsychiatr Genet. 2020 Oct;183(7):412-422. doi: 10.1002/ajmg.b.32816. Epub 2020 Aug 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32815282