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Genome sequencing and implications for rare disorders
The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact on individual health and expression of Mendelian...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591893/ https://www.ncbi.nlm.nih.gov/pubmed/31234920 http://dx.doi.org/10.1186/s13023-019-1127-0 |