Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the diagnostic yield of clinical exome sequencing in 188 ID p...
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| Автори: | , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2023-07-01
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| Серія: | Orphanet Journal of Rare Diseases |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s13023-023-02809-z |
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