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Q52916856-9392C1C5-C77C-4E88-AF23-0290B85B549F
Q52916856-9392C1C5-C77C-4E88-AF23-0290B85B549F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52916856-9392C1C5-C77C-4E88-AF23-0290B85B549F
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
P2860
Q52916856-9392C1C5-C77C-4E88-AF23-0290B85B549F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52916856-9392C1C5-C77C-4E88-AF23-0290B85B549F
rank
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wasDerivedFrom
d9c044bdf3a159bfa99890ca2de2b4954625c2b3
P2860
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin