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| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFS2 |
Ivone Leong Source NHS GMS was added to NDUFS2. Source London North GLH was added to NDUFS2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS2 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS2 |
Ellen McDonagh gene: NDUFS2 was added gene: NDUFS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 27604308 Phenotypes for gene: NDUFS2 were set to 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 structural subunits); Isolated complex I deficiency |
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