Article
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.
Human mutation - 1 Jan 2017
Li Meng, Feng Weixing, Zhang Xinjun, Yang Yuedong, Wang Kejun, Mort Matthew, Cooper David N, Wang Yue, Zhou Yaoqi, Liu Yunlong
Abstract excerpt
Alternative splicing (AS) is a closely regulated process that allows a single gene to encode multiple protein isoforms, thereby contributing to the diversity of the proteome. Dysregulation of the splicing process has been found to be associated with many inherited diseases. However, among the pathogenic AS events, there are numerous "passenger" events whose inclusion or exclusion does not lead to significant...
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