Activity
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3 actions
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| Additional findings_Paediatric v0.2 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome |
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| Additional findings_Paediatric v0.2 | ARSA | Zornitza Stark Added phenotypes Metachromatic leukodystrophy for gene: ARSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy |
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