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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ITPA |
Ivone Leong Source NHS GMS was added to ITPA. Source London North GLH was added to ITPA. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ITPA |
Ellen McDonagh gene: ITPA was added gene: ITPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 27604308 Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency (Disorders of purine metabolism); Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850 |
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