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Q37589625-4A4D0B3A-34C9-4E32-8C5F-672E00CEC832
Q37589625-4A4D0B3A-34C9-4E32-8C5F-672E00CEC832
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http://www.wikidata.org/entity/statement/Q37589625-4A4D0B3A-34C9-4E32-8C5F-672E00CEC832
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.
P2860
Q37589625-4A4D0B3A-34C9-4E32-8C5F-672E00CEC832
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37589625-4A4D0B3A-34C9-4E32-8C5F-672E00CEC832
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wasDerivedFrom
43a69e4e2aebee794bac7cef3625ae8ad1a848dd
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.