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| Additional findings_Paediatric v0.2 | JUP |
Zornitza Stark Source BabySeq Category B gene was added to JUP. Source Expert Review Amber was added to JUP. Mode of inheritance for gene JUP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arrhythmogenic right ventricular dysplasia 12 for gene: JUP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | JUP |
Zornitza Stark gene: JUP was added gene: JUP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease |
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