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Q40492542-33EDB364-0620-44EA-953E-21C15349DF73
Q40492542-33EDB364-0620-44EA-953E-21C15349DF73
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40492542-33EDB364-0620-44EA-953E-21C15349DF73
Clinical utility gene card for: Multi-minicore disease.
P2860
Q40492542-33EDB364-0620-44EA-953E-21C15349DF73
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40492542-33EDB364-0620-44EA-953E-21C15349DF73
rank
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Statement
wasDerivedFrom
bed320cd9ea2140babc55625705aa3277cea96e6
P2860
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.