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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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Detalles Bibliográficos
Autores principales:	Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2018
Materias:	Phenomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959948/ https://www.ncbi.nlm.nih.gov/pubmed/29340838 http://dx.doi.org/10.1007/s10545-017-0125-4

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