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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...

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Detalles Bibliográficos
Autores principales: Wang, Dandan, Dao, Maria, Muntean, Brian S, Giles, Andrew C, Martemyanov, Kirill A, Grill, Brock
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
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