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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

Wei Wu

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Open access Nov 2026

Case Report: A novel exon 1 splicing mutation in the non-coding region of the NR5A1 gene causing 46,XY disorders of sex development

NR5A1 plays a critical role in sex differentiation and adrenal development. As a transcription factor, it regulates multiple genes involved in reproductive and endocrine processes. Mutations in NR5A1 are commonly associated with disorders of sex development and adrenal insufficiency, and most reported variants...

Hui-Shuang Chen, Bao-Ling Lai, Hui-Ying Huang et al. · 0 citations

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