Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion> ?p ?o ?g. }
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- NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_assertion type Assertion NP348975.RAMQc68T5uP6TbCTGEYxgG4SSa6GcBZqShQ49XNeinkQI130_head.
- 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.