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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

Xinyuan Tian

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Case report Aug 2026

Effect of the unreported COL5A2 variant c.2499 + 4_2499 + 5insTAA on RNA splicing: Insights from minigene assays.

These findings expand the variant spectrum of COL5A2, improving molecular diagnosis of cEDS, and validate the pathogenicity of an unreported COL5A2 intronic variant in a Chinese family with cEDS.

Zhongying Zhao, Lianrui Tang, Jing Zhu et al. · 0 citations

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