Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

作者：Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akçaboy, Shiyong Liu, Hyung-Lok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oğuz, Ülkühan Öztoprak, Jeroen H. F. de Baaij, Jelena Ivanisevic, Erin McGinnis, María J. Guillen Sacoto, Wendy K. Chung, Hugo J. Bellen · 发表于：The American Journal of Human Genetics · 年份：2022 · DOI：10.1016/j.ajhg.2022.01.020 · 被引用次数：40 · 研究领域：Cellular transport and secretion、Ubiquitin and proteasome pathways、Cardiomyopathy and Myosin Studies