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Q49885135-C8ED470C-5D4B-4ACB-9722-F016A8EBF06E
Q49885135-C8ED470C-5D4B-4ACB-9722-F016A8EBF06E
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http://www.wikidata.org/entity/statement/Q49885135-C8ED470C-5D4B-4ACB-9722-F016A8EBF06E
Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.
P2860
Q49885135-C8ED470C-5D4B-4ACB-9722-F016A8EBF06E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49885135-C8ED470C-5D4B-4ACB-9722-F016A8EBF06E
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wasDerivedFrom
ee3a942b9fcc23583d575be81453eec2b4582aaf
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.