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| BabyScreen+ newborn screening v1.114 | UBA1 | Tommy Li Added phenotypes Spinal muscular atrophy, X-linked infantile for gene: UBA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile |
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