Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
TIAM1 的功能丧失变异与发育迟缓、智力障碍和癫痫发作有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.01.020
Shenzhao Lu, Rebecca Hernan, Paul C Marcogliese, Yan Huang, Tracy S Gertler, Meltem Akcaboy, Shiyong Liu, Hyung-Lok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oguz, Ulkühan Oztoprak, Jeroen H F de Baaij, Jelena Ivanisevic, Erin McGinnis, Maria J Guillen Sacoto, Wendy K Chung, Hugo J Bellen