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Future directions for high-throughput splicing assays in precision medicine
Classification of variants of unknown significance is a challenging technical problem in clinical genetics. As up to one third of disease-causing mutations are thought to affect pre-mRNA splicing, it is important to accurately classify splicing mutations in patient sequencing data. Several consortia...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6744296/ https://ncbi.nlm.nih.gov/pubmed/31297895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23866 |
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