Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility
Objective: To use whole exome sequencing (WES) in identifying pathogenic allele(s) in a challenging family of which specimen of the malignant hyperthermia (MH)-suspected case was not available. Points related to genetic counseling were also discussed. Materials and Methods: A counselee walked in for...
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| Format: | Article |
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2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/86667 |
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| Institution: | Mahidol University |