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Q36460971-1BC81B24-AF32-4214-A3B0-8B8359435946
Q36460971-1BC81B24-AF32-4214-A3B0-8B8359435946
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36460971-1BC81B24-AF32-4214-A3B0-8B8359435946
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
P2860
Q36460971-1BC81B24-AF32-4214-A3B0-8B8359435946
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36460971-1BC81B24-AF32-4214-A3B0-8B8359435946
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
400b2c0062c625e1913842abe03d3aea7382f1ff
P2860
A new congenital non-progressive myopathy.