Delineation of functionally essential protein regions for 242 neurodevelopmental genes
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DOI: 10.1093/brain/awac381
Abstract: Abstract Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a pathogenic variant. For many of them, genetic therapies will be tested… read more here.
Keywords: essential protein; essential3d sites; delineation functionally; functionally essential ... See more keywords