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Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
BACKGROUND: Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due to the high cost of implementation. Instead, patients have...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091645/ https://www.ncbi.nlm.nih.gov/pubmed/37046271 http://dx.doi.org/10.1186/s13023-023-02642-4 |