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<http://identifiers.org/pubmed/12719381> <http://purl.org/dc/terms/title> "A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia." <http://purl.org/np/RATHkFqX--TfnTs_ZkwqFzUgZ6Ttm2GM4BbG0bpy9tONY#provenance> .
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