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Likely inborn error of metabolism - targeted testing not possible v1.47 | GNPAT |
Ivone Leong Source NHS GMS was added to GNPAT. Source London North GLH was added to GNPAT. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPAT |
Ellen McDonagh gene: GNPAT was added gene: GNPAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 27604308 Phenotypes for gene: GNPAT were set to Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders); Rhizomelic chondrodysplasia punctata, type 2 222765 |