AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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PURPOSE The HIVEP3 gene encodes a zinc finger protein that regulates nuclear factor κB-mediated transcription and plays an essential role in neurodevelopment. Its association with human disease remains elusive. METHODS Trio-based whole-exome sequencing was performed in patients with unexplained epilepsy. Genotype-phe...
CACNA1C is potentially a candidate causative gene of focal epilepsy and the genotype-phenotype correlation of CACNA1C helps explain phenotypic heterogeneity.
Clinical severity broadly tracks with the predicted structural/biophysical impact of the variant and Munc18‐1 abundance, providing a mechanistic clue for phenotypic heterogeneity in STXBP1‐related disorders.
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