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RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing
High-throughput sequencing efforts in molecular tumour diagnostics detect increasing numbers of novel variants, including variants predicted to affect splicing. In silico prediction tools can reliably predict the effect of variant disrupting canonical splice sites; however, experimental validation i...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6057924/ https://ncbi.nlm.nih.gov/pubmed/29706640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0153-z |
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