AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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It is demonstrated that a scalable, quantitative assay capturing STXBP1 stability and syntaxin-binding behavior can differentiate benign from pathogenic variants and provide functional insights into mechanisms of pathogenicity.
Six patients from five unrelated families with biallelic, rare IRAK4 variants presenting with severe, persistent autoinflammation without immunodeficiency are identified and a strongly concordant clinical and radiological phenotype emerges of IRAK4-mediated autoinflammation, expanding the phenotypic and mutational spec...
A feasible natural history protocol with prospective data for two complex neurodevelopmental disorders with natural histories that have previously been incompletely characterized is presented, within a regulatory framework that will support the use of these data to expedite clinical trial development.
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