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| Additional findings_Paediatric v0.2 | COL6A1 | Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | COL6A1 |
Zornitza Stark gene: COL6A1 was added gene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy |
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