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| Likely inborn error of metabolism - targeted testing not possible v2.311 | PET117 | Arina Puzriakova Phenotypes for gene: PET117 were changed from lesions in the medulla oblongata to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | PET117 | Catherine Snow commented on gene: PET117 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | PET117 |
Catherine Snow gene: PET117 was added gene: PET117 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to lesions in the medulla oblongata |
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