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{ ?s ?p ?o <http://purl.org/np/RATHkFqX--TfnTs_ZkwqFzUgZ6Ttm2GM4BbG0bpy9tONY#provenance>. }
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12719381
title
"
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
"
provenance
.
assertion
SIO_000253
12719381
provenance
.
