Functional Analyses of Human Disease Associated Missense Variants
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Representative Results: Over-expression Based Functional Analyses of Disease Associated Variants in TBX2
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Conclusion
필기록
This protocol allows us to determine whether missense variants in human genes that are linked to diseases affect protein function. This is difficult to accomplish computationally even with state-of-the-art algorithms. This technique allows a rapid
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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.