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Additional findings_Paediatric v0.2 | CSTB | Zornitza Stark Added phenotypes Epilepsy, progressive myoclonic 1A for gene: CSTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A |