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Sponsored 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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Sara Romero-Vázquez

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Open access Aug 2026

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes

PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts) syndrome is a rare neurodegenerative inherited disorder characterized by a spectrum of these clinical phenotypes. Due to the considerable heterogeneity in the age of onset of the different clinical features and the similarities with other...

Sara Romero-Vázquez, Cécile Méjécase, A. Rodriguez-Martinez et al. · 0 citations

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