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Mosaic mutations in early-onset genetic diseases
PURPOSE: An emerging approach in medical genetics is to identify de novo mutations in patients with severe early-onset genetic disease that are absent in population controls and in the patient’s parents. This approach, however, frequently misses post-zygotic “mosaic” mutations that are present in on...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4929028/ https://ncbi.nlm.nih.gov/pubmed/26716362 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.155 |
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