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ExonImpact: Prioritizing pathogenic alternative splicing events

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, in amongst the p...

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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Li, Meng, Feng, Weixing, Zhang, Xinjun, Yang, Yuedong, Wang, Kejun, Mort, Matthew, Cooper, David N, Wang, Yue, Zhou, Yaoqi, Liu, Yunlong
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5390777/
https://ncbi.nlm.nih.gov/pubmed/27604408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23111
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