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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GCH1 |
Ivone Leong Source NHS GMS was added to GCH1. Source London North GLH was added to GCH1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GCH1 |
Ellen McDonagh gene: GCH1 was added gene: GCH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 27604308 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |
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