Genetic & Genomic MedicinemedRxivPreprint
Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
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