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| BabyScreen+ newborn screening v1.114 | PRPS1 | Tommy Li Added phenotypes Arts syndrome; Charcot-Marie-Tooth disease for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome |
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