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| Cardiomyopathy_Paediatric v0.0 | EPG5 |
Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23838600; 23674064; 26395118; 26917586; 23222957; 25331754; 28624465 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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