Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
Abstract This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and intellectual disability. The male patient, aged 4, began experiencing epileptic seizures at 3 months post-birth and has shown develo...
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| Format: | Book |
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BMC,
2024-07-01T00:00:00Z.
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