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Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFAF5 |
Ivone Leong Source NHS GMS was added to NDUFAF5. Source London North GLH was added to NDUFAF5. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh Added phenotypes Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5 Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh gene: NDUFAF5 was added gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency |