Thomas Q et al. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 Oct;23(10):1901-1911. PMID: 34113008.
Xu L et al. Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder. Front Mol Neurosci. 2022 Jun 17:15:862096. PMID: 35782386.
ARFGEF1