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Additional findings_Paediatric v0.2 | PNKP |
Zornitza Stark gene: PNKP was added gene: PNKP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay |