AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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The findings underscore RNU4-2 as a major cause of NDDs in ES-negative cases and further delineate the phenotypic spectrum of ReNU syndrome.
Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males, and its pathogenicity was evaluated using a molecular dynamic simulation and transgenic Drosophila models.
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