Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
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Ahring PK, et al. Among authors: diemer t.
Brain. 2022 May 24;145(4):1299-1309. doi: 10.1093/brain/awab391.
Brain. 2022.
PMID: 34633442
Free PMC article.