Sep 2026
Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.
Elisa A. Waxman, Jennine M. Dawicki-McKenna, I. McSalley et al.
· Epilepsia · 0 citations
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AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Sep 2026
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.
S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al.
· American Journal of Human Ge... · 0 citations