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Genomic newborn screening: BabyScreen+ v2.0 PABPN1 Gene migrated from ENSG00000100836 to ENSG00000100836 (gene set migration)
Genomic newborn screening: BabyScreen+ v0.0 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy