Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

BACKGROUND: Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions. IMDs often present with non-specific symptoms, a lack of a clear genotype–phenotype correlation, and de novo mutations, complicating diagn...

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Detalles Bibliográficos
Autores principales: Slenter, Denise N., Hemel, Irene M. G. M., Evelo, Chris T., Bierau, Jörgen, Willighagen, Egon L., Steinbusch, Laura K. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10131334/
https://www.ncbi.nlm.nih.gov/pubmed/37101200
http://dx.doi.org/10.1186/s13023-023-02683-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10131334/
https://www.ncbi.nlm.nih.gov/pubmed/37101200
http://dx.doi.org/10.1186/s13023-023-02683-9

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