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Q34013321-B5F14E1B-4405-46DE-BACF-5534AEC2FD0B
Q34013321-B5F14E1B-4405-46DE-BACF-5534AEC2FD0B
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http://www.wikidata.org/entity/statement/Q34013321-B5F14E1B-4405-46DE-BACF-5534AEC2FD0B
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report
P2860
Q34013321-B5F14E1B-4405-46DE-BACF-5534AEC2FD0B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34013321-B5F14E1B-4405-46DE-BACF-5534AEC2FD0B
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wasDerivedFrom
8e9fffebe58c5a50eb808c5fe773dd97a1bf0e21
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.