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| Additional findings_Paediatric v0.2 | CHST3 |
Zornitza Stark gene: CHST3 was added gene: CHST3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to Larsen syndrome |
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| Additional findings_Paediatric v0.2 | ARSE |
Zornitza Stark gene: ARSE was added gene: ARSE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive |
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