Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion wasGeneratedBy ECO_0000203 NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion wasDerivedFrom befree-20140225 NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion SIO_000772 15563506 NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion evidence source_evidence_literature NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion description "[Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_provenance.