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The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions
Synaptic gene conditions, i.e., “synaptopathies,” involve disruption to genes expressed at the synapse and account for between 0.5 and 2% of autism cases. They provide a unique entry point to understanding the molecular and biological mechanisms underpinning autism-related phenotypes. Phelan-McDermi...
Autores principales: | Cooke, Jennifer, Molloy, Ciara J., Cáceres, Antonia San José, Dinneen, Thomas, Bourgeron, Thomas, Murphy, Declan, Gallagher, Louise, Loth, Eva |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8894872/ https://www.ncbi.nlm.nih.gov/pubmed/35250452 http://dx.doi.org/10.3389/fnins.2022.806990 |
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