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