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| Additional findings_Paediatric v0.2 | HMBS |
Zornitza Stark gene: HMBS was added gene: HMBS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to Porphyria, acute intermittent |
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