需要订阅 JoVE 才能查看此. 登录或开始免费试用。
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
1,769 Views
•
06:35 min
•
October 10, 2022
DOI:
Summary
Automatically generated
A simple and scalable method was developed to assess the functional significance of missense variants in Ube3a, a gene whose loss and gain of function are linked to both Angelman syndrome and autism spectrum disorder.
Read Article
Cite this Article
Stelzer, J. A., Yi, J. J. A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants. J. Vis. Exp. (188), e64454, doi:10.3791/64454 (2022).
Copy