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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

Author

E. Place

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Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · 0 citations
Open access Aug 2026

Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease

SBNA can identify variants in human proteins that are likely to cause disease, and it can help predict variants causative of IRDs in an unbiased fashion using both AlphaFold2-generated structural models and experimental structural data.

Blake Hauser, E. Place, Yuyang Luo et al. · 0 citations

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