Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

Assessment of the functional consequences of variants near splice sites is a major challenge in the diagnostic laboratory. To address this issue, we created expression minigenes (EMGs) to determine the RNA and protein products generated by splice site variants (n = 10) implicated in cystic fibrosis...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Sharma, Neeraj, Sosnay, Patrick R., Ramalho, Anabela S., Douville, Christopher, Franca, Arianna, Gottschalk, Laura B., Park, Jeenah, Lee, Melissa, Vecchio-Pagan, Briana, Raraigh, Karen S., Amaral, Margarida D., Karchin, Rachel, Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4425124/
https://ncbi.nlm.nih.gov/pubmed/25066652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22624
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