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Genetic Counseling and Genome Sequencing in Pediatric Rare Disease
Both genome sequencing (GS) and exome sequencing (ES) have proven to be revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and increasing affordability make GS and ES more accessible as a routine clinical test in some centers. Herein, I review aspects of rare disease...
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| Publicado no: | Cold Spring Harb Perspect Med |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7050583/ https://ncbi.nlm.nih.gov/pubmed/31501267 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a036632 |
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