Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
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DOI: 10.1002/acn3.70013
Abstract: Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant… read more here.
Keywords: variant expand; dopa responsive; deep intronic; intronic variant ... See more keywords