Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
De novo mutations in the RNA binding protein DDX3X cause neurodevelopmental disorders including DDX3X syndrome and autism spectrum disorder. Amongst ~200 mutations identified to date, half are missense. While DDX3X loss of function is known to impair neural cell fate, how the landscape of missense m...
Bewaard in:
| Hoofdauteurs: | , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science (PLoS)
2025-01-01
|
| Reeks: | PLoS Genetics |
| Online toegang: | https://doi.org/10.1371/journal.pgen.1011555 |
| Tags: |
Geen labels, Wees de eerste die dit record labelt!
|