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Q46769258-1CC7DDA1-BD59-4C08-BEF6-89EA591C01A8
Q46769258-1CC7DDA1-BD59-4C08-BEF6-89EA591C01A8
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Statement
http://www.wikidata.org/entity/statement/Q46769258-1CC7DDA1-BD59-4C08-BEF6-89EA591C01A8
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
P2860
Q46769258-1CC7DDA1-BD59-4C08-BEF6-89EA591C01A8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46769258-1CC7DDA1-BD59-4C08-BEF6-89EA591C01A8
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type
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wasDerivedFrom
5869dfa01aea00b0c3ab7083af72a59cc3782ae4
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.