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In silico identification of pseudo-exon activation events in personal genome and transcriptome data
Causative mutations for human genetic disorders have mainly been identified in exonic regions that code for amino acid sequences. Recently, however, it has been reported that mutations in deep intronic regions can also cause certain human genetic disorders by creating novel splice sites, leading to...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Taylor & Francis
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951959/ https://www.ncbi.nlm.nih.gov/pubmed/32865117 http://dx.doi.org/10.1080/15476286.2020.1809195 |