Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediat...
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| Format: | Article |
| Published: |
2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/82123 |
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| Institution: | Mahidol University |