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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100 Publications for gene PET100 were changed from PMID: 24462369 to 24462369 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh gene: PET100 was added gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET100 were set to PMID: 24462369 Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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