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Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction
GNAO1 encephalopathy is a neurodevelopmental disorder with a spectrum of symptoms that include dystonic movements, seizures and developmental delay. While numerous GNAO1 mutations are associated with this disorder, the functional consequences of pathological variants are not completely understood. H...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8863422/ https://www.ncbi.nlm.nih.gov/pubmed/34508586 http://dx.doi.org/10.1093/hmg/ddab235 |