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Likely inborn error of metabolism - targeted testing not possible v1.76 | TOP3A |
Sarah Leigh gene: TOP3A was added gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 |