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Journal / Genetics / 在Vivo功能研究的疾病相关的稀有人类变异使用果蝇…
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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

Article DOI: 10.3791/59658-v • 06:41 min • August 20th, 2019
August 20th, 2019 •
*1, *2, 1,3,4,5, 1,2,4, 1,2,4,5
1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine
* These authors contributed equally

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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。

Tags

遗传学， 问题 150， 人类遗传学和基因组学， 孟德尔病， 罕见和未确诊的疾病， 未诊断的疾病网络，果蝇黑色素，未知意义的变异， VUS， 不确定意义的基因， GUS， 功能基因组学、转基因苍蝇、UAS/GAL4系统、T2A-GAL4、电热表、ERG
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