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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6A1 | Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6A1 |
Ellen McDonagh gene: COX6A1 was added gene: COX6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039 |