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Likely inborn error of metabolism - targeted testing not possible v1.47 | EPM2A |
Ivone Leong Source NHS GMS was added to EPM2A. Source London North GLH was added to EPM2A. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EPM2A |
Ellen McDonagh gene: EPM2A was added gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |