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Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
OBJECTIVE: To determine whether mutations reported for ZDHHC15 can cause mixed neurodevelopmental disorders, we performed both functional studies on variant pathogenicity and ZDHHC15 function in animal models. METHODS: We examined protein function of 4 identified variants in ZDHHC15 in a yeast compl...
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| Publicat a: | Neurol Genet |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8323736/ https://ncbi.nlm.nih.gov/pubmed/34345675 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000602 |
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