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| Additional findings_Paediatric v0.2 | NSDHL |
Zornitza Stark Source BabySeq Category C gene was added to NSDHL. Source Expert Review Red was added to NSDHL. Added phenotypes CK syndrome for gene: NSDHL Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CHILD syndrome |
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