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Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases
Next-generation sequencing has greatly accelerated the discovery of rare human genetic diseases. Nearly 45% of patients have variants associated with known diseases but the unsolved cases remain a conundrum. Moreover, causative mutations can be difficult to pinpoint because variants frequently map t...
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| Publicado no: | Development |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Company of Biologists Ltd
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7541339/ https://ncbi.nlm.nih.gov/pubmed/32988995 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dev.191411 |
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