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| Additional findings_Paediatric v0.2 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 |
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