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| Additional findings_Paediatric v0.2 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1 |
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