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Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate “Diseased” Hepatocytes for Accurate Diagnosis
The diagnosis of inherited metabolic disorders is a long and tedious process. The matching of clinical data with a genomic variant in a specific metabolic pathway is an essential step, but the link between a genome and the clinical data is normally difficult, primarily for new missense variants or a...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322025/ https://www.ncbi.nlm.nih.gov/pubmed/35887608 http://dx.doi.org/10.3390/jpm12071111 |