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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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha: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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