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Additional findings_Paediatric v0.2 | AMACR | Zornitza Stark Added phenotypes Alpha-methylacyl-CoA racemase deficiency for gene: AMACR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.2 | AMACR |
Zornitza Stark gene: AMACR was added gene: AMACR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4 |