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| Genomic newborn screening: BabyScreen+ v2.0 | PHKA1 | Gene migrated from ENSG00000067177 to ENSG00000067177 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | PHKA1 |
Zornitza Stark gene: PHKA1 was added gene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency |
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