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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PSAP |
Ivone Leong Source NHS GMS was added to PSAP. Source London North GLH was added to PSAP. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAP |
Ellen McDonagh gene: PSAP was added gene: PSAP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 27604308 Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 |
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