Publication: Delineation of functionally essential protein regions for 242 neurodevelopmental genes
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Abstract
Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a path...
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Iqbal S, Brünger T, Pérez-Palma E, Macnee M, Brunklaus A, Daly MJ, Campbell AJ, Hoksza D, May P, Lal D. Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain. 2023 Feb 13;146(2):519-533. doi: 10.1093/brain/awac381
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