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Q58545499-04F18460-6E9F-4BA1-BC42-CE86D22A2BE3
Q58545499-04F18460-6E9F-4BA1-BC42-CE86D22A2BE3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58545499-04F18460-6E9F-4BA1-BC42-CE86D22A2BE3
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene
P2860
Q58545499-04F18460-6E9F-4BA1-BC42-CE86D22A2BE3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58545499-04F18460-6E9F-4BA1-BC42-CE86D22A2BE3
rank
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type
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wasDerivedFrom
e608f904cc878ebff1c61cf887c37cf1aaa92330
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