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Likely inborn error of metabolism v1.47 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Source London North GLH was added to PPT1.
Likely inborn error of metabolism v0.4 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 27604308
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1