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Likely inborn error of metabolism - targeted testing not possible v1.76 | ISCA1 |
Sarah Leigh gene: ISCA1 was added gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 |