The different clinical facets of SYN1-related neurodevelopmental disorders
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DOI: 10.3389/fcell.2022.1019715
Abstract: Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical and molecular… read more here.
Keywords: neurodevelopmental disorders; syn1 related; syn1 variants; truncating variants ... See more keywords