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| Epidermolysis bullosa and congenital skin fragility v1.55 | JUP | Arina Puzriakova Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.24 | JUP |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214 |
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| Epidermolysis bullosa and congenital skin fragility v1.24 | JUP | Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | JUP |
Ellen McDonagh gene: JUP was added gene: JUP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 20130592; 19067702; 10902626; 21668431 Phenotypes for gene: JUP were set to Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 |
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