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Q34013321-6EB9F94F-0699-4F65-B435-6ACA17B870E3
Q34013321-6EB9F94F-0699-4F65-B435-6ACA17B870E3
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http://www.wikidata.org/entity/statement/Q34013321-6EB9F94F-0699-4F65-B435-6ACA17B870E3
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
Q34013321-6EB9F94F-0699-4F65-B435-6ACA17B870E3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34013321-6EB9F94F-0699-4F65-B435-6ACA17B870E3
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wasDerivedFrom
eabfaf88441601e6ce6c5d706012f840a074a700
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.