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Additional findings_Paediatric v0.2 CYP27A1 Zornitza Stark Added phenotypes Cerebrotendinous xanthomatosis for gene: CYP27A1
Additional findings_Paediatric v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis