An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead, have often been underval...

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Detalles Bibliográficos
Autores principales: Wang, Li, Pang, Kaifang, Han, Kihoon, Adamski, Carolyn J., Wang, Wei, He, Lingjie, Lai, Jason K., Bondar, Vitaliy V, Duman, Joseph G., Richman, Ronald, Tolias, Kimberley F., Barth, Patrick, Palzkill, Timothy, Liu, Zhandong, Holder, J. Lloyd, Zoghbi, Huda Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609509/
https://www.ncbi.nlm.nih.gov/pubmed/30610205
http://dx.doi.org/10.1038/s41380-018-0324-x

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