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Q34996571-AEFE2C8B-07B2-45CE-B89C-D63D669D416A
Q34996571-AEFE2C8B-07B2-45CE-B89C-D63D669D416A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34996571-AEFE2C8B-07B2-45CE-B89C-D63D669D416A
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region
P2860
Q34996571-AEFE2C8B-07B2-45CE-B89C-D63D669D416A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34996571-AEFE2C8B-07B2-45CE-B89C-D63D669D416A
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Statement
wasDerivedFrom
214359e6d114ddde108448ab93a3d1d20d1a6b66
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.