Litcius/Paper detail

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

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

2022The American Journal of Human Genetics39 citationsDOIOpen Access PDF

Topics & Concepts

BiologyProbandPhenotypeLoss functionPhenocopyGeneticsMissense mutationEctopic expressionNeuroscienceGeneMutationCellular transport and secretionUbiquitin and proteasome pathwaysCardiomyopathy and Myosin Studies