A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can...
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| Auteurs principaux: | , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
SAGE Publishing
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/9053230a0dc94142a3f1f50bc5435124 |
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