An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2017-09-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-017-00472-0 |