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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HMBS |
Ivone Leong Source NHS GMS was added to HMBS. Source London North GLH was added to HMBS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 27604308 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 |
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