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| Genomic newborn screening: BabyScreen+ v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA4 |
Zornitza Stark gene: ABCA4 was added gene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Stargardt disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA3 |
Zornitza Stark gene: ABCA3 was added gene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome |
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