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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ABAT |
Ivone Leong Source NHS GMS was added to ABAT. Source London North GLH was added to ABAT. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh gene: ABAT was added gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome |
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