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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SHPK |
Ivone Leong Source NHS GMS was added to SHPK. Source London North GLH was added to SHPK. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SHPK |
Ellen McDonagh gene: SHPK was added gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHPK were set to 27604308 Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213 |
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