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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
JoVE 杂志
神经科学
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JoVE 杂志 神经科学
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

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06:35 min

October 10, 2022

DOI:

06:35 min
October 10, 2022

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Summary

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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.

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