Browsing Department of Biomedicine by Author "Elia, Maurizio"

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    • Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 

      Vinci, Mirella; Kursula, Petri; Greco, Donatella; Elia, Maurizio; Vetri, Luigi; Schepis, Carmelo; Chiavetta, Valeria; Donadio, Serena; Roccella, Michele; Carotenuto, Marco; Romano, Valentino; Calì, Francesco (Journal article; Peer reviewed, 2022)
      Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear ...