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| BabyScreen+ newborn screening v1.114 | PABPN1 | Tommy Li Added phenotypes Oculopharyngeal muscular dystrophy for gene: PABPN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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 |
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