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| Additional findings_Paediatric v0.2 | NEBL |
Zornitza Stark gene: NEBL was added gene: NEBL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome |
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| Additional findings_Paediatric v0.2 | NEB |
Zornitza Stark gene: NEB was added gene: NEB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy |
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