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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

C. Dhaenens

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Open access Aug 2026

Neonatal mitochondrial encephalopathy due to a splice-altering variant in COX16

Two siblings born to consanguineous parents who presented with neonatal hypotonia, respiratory failure, lactic acidosis and early death are described, establishing the pathogenicity of a splice-altering COX16 variant and expanding the genetic and phenotypic spectrum of COX16 -related mitochondrial disease.

Nicolas Geoffre, N. Gueguen, Anne-Sophie Guémann et al. · 0 citations

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