Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_assertion description "[This novel causative mutation (D614N) within the DNM2 gene in a large Polish centronuclear myopathy family with a late age of overt clinical manifestation caused profound changes in DNM2 localization and impaired proper organization of myofibers, and skeletal muscle functioning.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_assertion evidence source_evidence_literature NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_assertion SIO_000772 23374900 NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_assertion wasDerivedFrom befree-20140225 NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_assertion wasGeneratedBy ECO_0000203 NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.
- befree-20140225 importedOn "2014-02-25" NP566862.RAiXWRQ9hrtdpg6GgqnM4ZcsWXMRHkN83oQKPxf47o930130_provenance.