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Q37004813-678636D6-5A32-4A9E-963D-B67248684FAC
Q37004813-678636D6-5A32-4A9E-963D-B67248684FAC
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http://www.wikidata.org/entity/statement/Q37004813-678636D6-5A32-4A9E-963D-B67248684FAC
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.
P2860
Q37004813-678636D6-5A32-4A9E-963D-B67248684FAC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37004813-678636D6-5A32-4A9E-963D-B67248684FAC
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4c8a7a2a8e6fabd2c461ad353f6ba3122f1f271b
P2860
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.