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| Additional findings_Paediatric v0.2 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome |
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| Additional findings_Paediatric v0.2 | CHM | Zornitza Stark Added phenotypes Choroideremia for gene: CHM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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