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| Likely inborn error of metabolism v0.4 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 28624465; 23222957; 26917586; 23674064; 25331754; 23838600; 26395118 Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
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