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Nature Genetics|October 19, 2023
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseasesMargaret G Guo, David L Reynolds, Cheen E Ang, et al.
Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
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