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  • Molecular assay reagents intended to identify deletions or duplications of the GTP cyclohydrolase 1 (GCH1) gene, located at chromosome 14q22.1-q22.2, which encodes the protein GTP cyclohydrolase 1. Genetic variants at this locus have been associated with DOPA-responsive dystonia and GTP cyclohydrolase I deficiency.
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