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Additional findings_Paediatric v0.2 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Hypotonia - cystinuria syndrome