Activity
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| Likely inborn error of metabolism v1.47 | NDUFS8 |
Ivone Leong Source NHS GMS was added to NDUFS8. Source London North GLH was added to NDUFS8. |
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| Likely inborn error of metabolism v0.4 | NDUFS8 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS8 Publications for gene NDUFS8 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | NDUFS8 |
Ellen McDonagh gene: NDUFS8 was added gene: NDUFS8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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