Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020
Columbia Affiliation:
Subjects:
Intellectual Disability
(MeSH)
Mechanisms of Intracellular Membrane Trafficking
(OpenAlex Topic)
Ubiquitin-Proteasome Proteolytic Pathway
(OpenAlex Topic)
Diagnosis and Management of Hypertrophic Cardiomyopathy
(OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.01.020
PMID:
Journal:
Publication Date:
Data Source:
Scopus