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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh gene: COQ8B was added gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families). Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9 |