Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | COX14 |
Ivone Leong Source NHS GMS was added to COX14. Source London North GLH was added to COX14. |
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| Likely inborn error of metabolism v0.4 | COX14 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14 Publications for gene COX14 were changed from PMID: 22243966 to 27604308 |
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| Likely inborn error of metabolism v0.4 | COX14 |
Ellen McDonagh gene: COX14 was added gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX14 were set to PMID: 22243966 Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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