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Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay

Ankyrins are a family of proteins that link integral membrane proteins to the underlying spectrin-actin cytoskeleton and play a key role in activities such as cell motility, activation, proliferation, cell–cell contact, and the maintenance of specialized membrane domains. Ankyrin 3 (ANK3) is one of...

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Detalles Bibliográficos
Autores principales:	Fang, Xiaolan, Fee, Timothy, Davis, Jessica, Stolerman, Elliot S., Caylor, Raymond C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2023
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393183/ https://www.ncbi.nlm.nih.gov/pubmed/37263801 http://dx.doi.org/10.1101/mcs.a006233

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