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| Genomic newborn screening: ICoNS v0.16 | PAH |
Lilian Downie gene: PAH was added gene: PAH was added to Genomic newborn screening: ICoNS. Sources: Expert list Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to PMID: 39630157; 40378670 Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600 Review for gene: PAH was set to GREEN Added comment: Definitive gene disease association Definitive for actionability in childhood Included in traditional newborn screening in all jurisdictions Sources: Expert list |
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