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Missense variants in RPH3Acause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
- Source :
- Genetics in Medicine; November 2023, Vol. 25 Issue: 11
- Publication Year :
- 2023
-
Abstract
- RPH3Aencodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition. We investigated the effect of variants in RPH3Ain patients with neurodevelopmental disorders.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 11
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63439741
- Full Text :
- https://doi.org/10.1016/j.gim.2023.100922