A first large study of whole-exome sequencing (WES) in 489 patients with suspected rare genetic disorders at a tertiary centre in Malaysia
Introduction: Rare genetic disorders occur at a rate of 40–82 per 1000 live births worldwide. Identifying the molecular cause of rare genetic disorders is beneficial because it allows early diagnosis, facilitates treatment planning and provision of accurate genetic counselling. In Malaysia, it is es...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2025-01-01
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| coleção: | Rare |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2950008725000468 |
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