No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism
Abstract Inborn errors of metabolism (IEMs) are severe genetic disorders caused by disruptions in metabolic pathways, frequently presenting in early life. Exome (ES) and genome (GS) sequencing have revolutionized the diagnostic approach for Mendelian disorders. However, most studies evaluating the d...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Portfolio
2026-03-01
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| Colección: | npj Genomic Medicine |
| Acceso en línea: | https://doi.org/10.1038/s41525-026-00562-3 |
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