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Q37035750-4626E162-A678-48B4-9234-B85BA8F0BBB5
Q37035750-4626E162-A678-48B4-9234-B85BA8F0BBB5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37035750-4626E162-A678-48B4-9234-B85BA8F0BBB5
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
P2860
Q37035750-4626E162-A678-48B4-9234-B85BA8F0BBB5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37035750-4626E162-A678-48B4-9234-B85BA8F0BBB5
rank
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Statement
wasDerivedFrom
d5645f7079180b018d99ff841ea3bfc487f44d5e
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.