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BabyScreen+ newborn screening v1.114 | PNPLA1 | Tommy Li Added phenotypes Ichthyosis, autosomal recessive congenital for gene: PNPLA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | PNPLA1 |
Zornitza Stark gene: PNPLA1 was added gene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital |