No abstract available
Keywords:
GCH1; dopamine responsive dystonia; inversion; optical genome mapping; structural variants; whole genome sequencing.
MeSH terms
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Adult
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Dystonic Disorders* / drug therapy
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Dystonic Disorders* / genetics
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Female
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GTP Cyclohydrolase* / genetics
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Humans
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Male
Substances
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GTP Cyclohydrolase
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GCH1 protein, human
Supplementary concepts
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Dystonia, Dopa-responsive