NeurosciencebioRxivPreprint
Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDAS
Qi Chen, Xixi Liu, Mengnan Wu…·Yan ping Jiang
The paper investigates the missense mutation ADNP p.C687R in HVDAS, showing it disrupts chromatin regulation and GABAergic differentiation through gain-of-function mechanisms.