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Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A13 |
Ivone Leong Source NHS GMS was added to SLC25A13. Source London North GLH was added to SLC25A13. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A13 | Ellen McDonagh Added phenotypes Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A13 |
Ellen McDonagh gene: SLC25A13 was added gene: SLC25A13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 27604308 Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471; Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) |