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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Autores principales: Tong Qiu, Qian Dai, Qiu Wang
Formato: article
Lenguaje:EN
Publicado: SAGE Publishing 2021
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Acceso en línea:https://doaj.org/article/9053230a0dc94142a3f1f50bc5435124
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