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High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing
Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by next-generation sequencing. In our model system, all exonic a...
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| 出版年: | RNA Biol |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Taylor & Francis
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6779402/ https://ncbi.nlm.nih.gov/pubmed/31213135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15476286.2019.1630796 |
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