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Q24563749-5CE16B4F-1F6A-4E03-B630-2EC5339D465D
Q24563749-5CE16B4F-1F6A-4E03-B630-2EC5339D465D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24563749-5CE16B4F-1F6A-4E03-B630-2EC5339D465D
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
P2860
Q24563749-5CE16B4F-1F6A-4E03-B630-2EC5339D465D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24563749-5CE16B4F-1F6A-4E03-B630-2EC5339D465D
rank
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type
BestRank
Statement
wasDerivedFrom
27d887d9dc828ad8143794db67fc249cbfb73c48
P2860
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme