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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

A. Denommé-Pichon

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Open access Oct 2026

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

SRSF3 (SRp20), a member of the serine/arginine-rich protein family of splicing factors, plays a central role in constitutive and alternative splicing. The C-terminal arginine/serine-rich domain of SRSF3 undergoes dynamic phosphorylation cycles that regulate its subcellular localization, protein-protein interactions, an...

J. Lisfeld, I. Chinn, Bo Yuan et al. · 0 citations
Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.

S. Efthymiou, K. Tabata, H. Dafsari et al. · 0 citations

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