Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion description "[Although a clinical overlap between patients with dominant and recessive RYR1 mutations exists, in most cases with recessive mutations the pattern of muscle weakness is remarkably different from that observed in dominant CCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion evidence source_evidence_literature NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion SIO_000772 17483490 NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion wasDerivedFrom befree-20140225 NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion wasGeneratedBy ECO_0000203 NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance.