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Q28078298-7F114965-105C-46B6-98A3-05E1435E0C45
Q28078298-7F114965-105C-46B6-98A3-05E1435E0C45
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http://www.wikidata.org/entity/statement/Q28078298-7F114965-105C-46B6-98A3-05E1435E0C45
Calcium Dyshomeostasis in Tubular Aggregate Myopathy
P2860
Q28078298-7F114965-105C-46B6-98A3-05E1435E0C45
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28078298-7F114965-105C-46B6-98A3-05E1435E0C45
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wasDerivedFrom
fd8c1914384e5705a7c7ccec8669766af84832f6
P2860
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.