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Cerebral organoids containing an AUTS2 missense variant model microcephaly

Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid model to investigate the pathophysiology of a heterozygous de novo missense AU...

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Detalles Bibliográficos
Autores principales: Fair, Summer R, Schwind, Wesley, Julian, Dominic L, Biel, Alecia, Guo, Gongbo, Rutherford, Ryan, Ramadesikan, Swetha, Westfall, Jesse, Miller, Katherine E, Kararoudi, Meisam Naeimi, Hickey, Scott E, Mosher, Theresa Mihalic, McBride, Kim L, Neinast, Reid, Fitch, James, Lee, Dean A, White, Peter, Wilson, Richard K, Bedrosian, Tracy A, Koboldt, Daniel C, Hester, Mark E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825673/
https://www.ncbi.nlm.nih.gov/pubmed/35802027
http://dx.doi.org/10.1093/brain/awac244