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Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics
Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5′-splice-site (5′ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies be...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Cold Spring Harbor Laboratory Press
2008
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2134769/ https://ncbi.nlm.nih.gov/pubmed/18032726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.6859308 |
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