Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly understood. Here, we develop a large-scale assay to characterize the functional valence (gain or loss-of-function) of missense variants identified in UBE3A, the gene whose loss-of-function causes the neur...

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Detalles Bibliográficos
Autores principales: Weston, Kellan P., Gao, Xiaoyi, Zhao, Jinghan, Kim, Kwang-Soo, Maloney, Susan E., Gotoff, Jill, Parikh, Sumit, Leu, Yen-Chen, Wu, Kuen-Phon, Shinawi, Marwan, Steimel, Joshua P., Harrison, Joseph S., Yi, Jason J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8635412/
https://www.ncbi.nlm.nih.gov/pubmed/34815418
http://dx.doi.org/10.1038/s41467-021-27156-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8635412/
https://www.ncbi.nlm.nih.gov/pubmed/34815418
http://dx.doi.org/10.1038/s41467-021-27156-0

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