IRF2BPL Is Associated with Neurological Phenotypes - Marcogliese, Paul C.; Rosenfeld, Jill A.; Koenig, Mary Kay; Chen, Agnes H.; Dickson, Patricia I.; Vera, Moin U.; Salamon, Noriko; Infante, Elena; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Kanca, Oguz; et al. (American journal of human genetics, 2018)
Keywords: ataxia; C3HC4 RING finger; CG11138; developmental regression; Drosophila; EAP1; hypotonia; neurodegeneration; pits; seizures; CG11138; ataxia; Drosophila; neurodegeneration; seizures; C3HC4 RING finger; developmental regression; pits; EAP1; hypotonia