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October 10, 2022
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Se desarrolló un método simple y escalable para evaluar la importancia funcional de las variantes sin sentido en Ube3a, un gen cuya pérdida y ganancia de función están relacionadas tanto con el síndrome de Angelman como con el trastorno del espectro autista.
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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).
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