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Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

Phenomics is the comprehensive study of phenotypes at every level of biology: from metabolites to organisms. With high throughput technologies increasing the scope of biological discoveries, the field of phenomics has been developing rapid and precise methods to collect, catalog, and analyze phenoty...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5959948/
https://ncbi.nlm.nih.gov/pubmed/29340838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0125-4
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