AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
Findings supported the classification of the TP53 germline variant c.671A>C (p.E224A) as likely pathogenic, providing a definitive molecular diagnosis for family counselling and sheds light on how certain predicted TP53 missense variants can be linked to disease mechanisms through RNA splicing disruption.
The findings support ATP6V0C as a relevant gene in the landscape of childhood epilepsies with fever sensitivity and highlight the importance of accurate molecular diagnosis in children presenting with fever-sensitive seizures, with potential implications for future precision therapies.
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