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| Additional findings_Paediatric v0.2 | COL17A1 | Zornitza Stark Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type for gene: COL17A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | COL17A1 |
Zornitza Stark gene: COL17A1 was added gene: COL17A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type |
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