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Likely inborn error of metabolism - targeted testing not possible v1.47 | GCLC |
Ivone Leong Source NHS GMS was added to GCLC. Source London North GLH was added to GCLC. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCLC |
Ellen McDonagh gene: GCLC was added gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 |