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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGPS |
Ivone Leong Source NHS GMS was added to AGPS. Source London North GLH was added to AGPS. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGPS |
Ellen McDonagh gene: AGPS was added gene: AGPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 27604308 Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) |