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| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFAF6 |
Ivone Leong Source NHS GMS was added to NDUFAF6. Source London North GLH was added to NDUFAF6. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh gene: NDUFAF6 was added gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency |
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