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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46 Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to PMID: 26168012 Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder |