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Q24291045-D06A8FC0-6313-49C3-B254-6E82B5647EA3
Q24291045-D06A8FC0-6313-49C3-B254-6E82B5647EA3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24291045-D06A8FC0-6313-49C3-B254-6E82B5647EA3
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II
P2860
Q24291045-D06A8FC0-6313-49C3-B254-6E82B5647EA3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24291045-D06A8FC0-6313-49C3-B254-6E82B5647EA3
rank
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type
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Statement
wasDerivedFrom
487a9a9f2045d932e66f43fe467ea99c4ee59f57
P2860
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I