Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system
| Autor: | Forrest, Iain S., Duffy, Áine, Park, Joshua K., Vy, Ha My T., Pasquale, Louis R., Nadkarni, Girish N., Cho, Judy H., Do, Ron |
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| Zdroj: | In Cell Reports Medicine 21 May 2024 5(5) |
| Databáze: | ScienceDirect |
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