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Q34254547-FADBDBEA-5961-48F1-9EE6-4F2443DB0895
Q34254547-FADBDBEA-5961-48F1-9EE6-4F2443DB0895
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http://www.wikidata.org/entity/statement/Q34254547-FADBDBEA-5961-48F1-9EE6-4F2443DB0895
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
P2860
Q34254547-FADBDBEA-5961-48F1-9EE6-4F2443DB0895
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34254547-FADBDBEA-5961-48F1-9EE6-4F2443DB0895
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wasDerivedFrom
893757b9e19f661d3946187197e6d01dd4693aec
P2860
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.