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| Likely inborn error of metabolism - targeted testing not possible v1.47 | TPP1 |
Ivone Leong Source NHS GMS was added to TPP1. Source London North GLH was added to TPP1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TPP1 |
Ellen McDonagh gene: TPP1 was added gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 27604308 Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia |
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