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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

Mirella Vinci1, Carola Costanza2, Rosanna Galati Rando1

  • 1Oasi Research Institute-IRCCS, 94018 Troina, Italy.

International Journal of Molecular Sciences
|November 25, 2023
PubMed

Keywords:
SNAP25STXBP6 geneamysinepilepsynext-generation sequencing

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