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1
Q44420417-3D2014C4-3D91-4AF6-A469-43B8D25B16DE
Q44420417-3D2014C4-3D91-4AF6-A469-43B8D25B16DE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44420417-3D2014C4-3D91-4AF6-A469-43B8D25B16DE
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
P2093
Q44420417-3D2014C4-3D91-4AF6-A469-43B8D25B16DE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44420417-3D2014C4-3D91-4AF6-A469-43B8D25B16DE
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4553d4414e4ec948aa4c89eac67a48f538fe6259
P1545
6
http://www.w3.org/2001/XMLSchema#string
P2093
Joel Lunardi
http://www.w3.org/2001/XMLSchema#string