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Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders
The search for causative mutations in human genetic disorders has mainly focused on mutations that disrupt coding regions or splice sites. Recently, however, it has been reported that mutations creating splice sites can also cause a range of genetic disorders. In this study, we identified 5656 candi...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933504/ https://www.ncbi.nlm.nih.gov/pubmed/35304488 http://dx.doi.org/10.1038/s41525-022-00294-0 |