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Q21202972-59D589A2-1146-4610-A9B8-86AE1BE61E46
Q21202972-59D589A2-1146-4610-A9B8-86AE1BE61E46
BestRank
Statement
http://www.wikidata.org/entity/statement/Q21202972-59D589A2-1146-4610-A9B8-86AE1BE61E46
Central core disease
P2860
Q21202972-59D589A2-1146-4610-A9B8-86AE1BE61E46
BestRank
Statement
http://www.wikidata.org/entity/statement/Q21202972-59D589A2-1146-4610-A9B8-86AE1BE61E46
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wasDerivedFrom
e1405420889c5135913d677266c1a1910a094028
P2860
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.