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在Vivo功能研究的疾病相关的稀有人类变异使用果蝇
JoVE Journal
Genetics
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JoVE Journal Genetics
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
DOI:

00:06 min

August 20, 2019

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Chapters

  • 00:04Title
  • 00:57Functional Analyses of Human Disease Associated Missense Variants
  • 04:51Representative Results: Over-expression Based Functional Analyses of Disease Associated Variants in TBX2
  • 06:02Conclusion

Summary

Automatic Translation

该协议的目的是概述在果蝇黑色素体内实验的设计和性能,以评估与人类疾病相关的罕见基因变异的功能后果。

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