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Q37397231-6F4203DB-B2C1-4C9B-A47E-70FAE50BFE5B
Q37397231-6F4203DB-B2C1-4C9B-A47E-70FAE50BFE5B
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http://www.wikidata.org/entity/statement/Q37397231-6F4203DB-B2C1-4C9B-A47E-70FAE50BFE5B
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
P2860
Q37397231-6F4203DB-B2C1-4C9B-A47E-70FAE50BFE5B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37397231-6F4203DB-B2C1-4C9B-A47E-70FAE50BFE5B
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wasDerivedFrom
019405988b9ff37ae71f726a6fb464490d0ebe8f
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.