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Additional findings_Paediatric v1.0 PKLR Gene migrated from ENSG00000143627 to ENSG00000143627 (gene set migration)
Additional findings_Paediatric v0.2 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency