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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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Zhiyv Niu

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Case report Open access Sep 2026

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

A patient with a TUBA4A pathogenic variant with adulthood‐onset genetic myasthenic syndrome accompanied by myopathy and infertility is described to highlight the neuromuscular junction defect as the main feature of the patient's phenotype.

Margherita Milone, Stefan Nicolau, Zhiyv Niu et al. · 0 citations

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