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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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

The goal of this protocol is to outline the design and performance of in vivo experiments in Drosophila melanogaster to assess the functional consequences of rare gene variants associated with human diseases.

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