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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6AP1 |
Ellen McDonagh Added phenotypes Immunodeficiency 47 for gene: ATP6AP1 Publications for gene ATP6AP1 were changed from to 27231034 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6AP1 |
Ellen McDonagh gene: ATP6AP1 was added gene: ATP6AP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47 |