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| Additional findings_Paediatric v0.2 | AKR1D1 | Zornitza Stark Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 |
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