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| Additional findings_Paediatric v0.2 | NGLY1 |
Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function |
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