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Additional findings_Paediatric v0.2 | CEP290 | Zornitza Stark Added phenotypes Joubert syndrome for gene: CEP290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | CEP290 |
Zornitza Stark gene: CEP290 was added gene: CEP290 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome |