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Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
Small insertions/deletions (INDELs) of ≤21 bp comprise 18% of all recorded mutations causing human inherited disease and are evident in 24% of documented Mendelian diseases. INDELs affect gene function in multiple ways: for example, by introducing premature stop codons that either lead to the produc...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4014196/ https://ncbi.nlm.nih.gov/pubmed/24436305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu019 |
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