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| Additional findings_Paediatric v0.2 | PEX7 | Zornitza Stark Added phenotypes Rhizomelic chondrodysplasia punctata for gene: PEX7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Refsum disease |
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