Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

[Image: see text] Copy number variants (CNVs) that delete or duplicate 30 genes within the 16p11.2 genomic region give rise to a range of neurodevelopmental phenotypes with high penetrance in humans. Despite the identification of this small region, the mechanisms by which 16p11.2 CNVs lead to diseas...

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Detalles Bibliográficos
Autores principales: Kostic, Milos, Raymond, Joseph J., Freyre, Christophe A. C., Henry, Beata, Tumkaya, Tayfun, Khlghatyan, Jivan, Dvornik, Jill, Li, Jingyao, Hsiao, Jack S., Cheon, Seon Hye, Chung, Jonathan, Sun, Yishan, Dolmetsch, Ricardo E., Worringer, Kathleen A., Ihry, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655044/
https://www.ncbi.nlm.nih.gov/pubmed/37903506
http://dx.doi.org/10.1021/acschemneuro.3c00442

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