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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

Emily N. Pöschel

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Open access Aug 2026

Isoform-specific regulation of SMARCAD1 dosage in ectodermal homeostasis and dysplasia

It is shown that independent patient-derived mutations impair splicing of SMARCAD1-s, the skin-specific short isoform of the ATP-dependent chromatin remodeller SMARCAD1, resulting in intron retention, providing evidence for a threshold-dependent haploinsufficiency model of disease.

M. Seibert, Lea Kursawe, Manuel Lang et al. · 0 citations

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