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| Likely inborn error of metabolism v9.20 | ATP6AP2 | Eleanor Williams Entity copied from Congenital disorders of glycosylation v8.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.20 | ATP6AP2 |
Eleanor Williams gene: ATP6AP2 was added gene: ATP6AP2 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q3_26_promote_green tags were added to gene: ATP6AP2. Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 29127204; 38075676; 41131679 Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, OMIM:301045; congenital disorder of glycosylation, type IIr, MONDO:0026765; congenital disorder of glycosylation, type IIr, X-linked recessive Mode of pathogenicity for gene: ATP6AP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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