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Additional findings_Paediatric v0.2 | GJB2 |
Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2 |
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Additional findings_Paediatric v0.2 | GJB2 |
Zornitza Stark Mode of inheritance for gene GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Deafness for gene: GJB2 |
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Additional findings_Paediatric v0.0 | GJB2 |
Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2 |
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Additional findings_Paediatric v0.0 | GJB2 |
Zornitza Stark gene: GJB2 was added gene: GJB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJB2 were set to Deafness |