Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion> ?p ?o ?g. }
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- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion type Assertion NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_head.
- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion description "[Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_provenance.
- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion evidence source_evidence_literature NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_provenance.
- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion SIO_000772 15955946 NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_provenance.
- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion wasDerivedFrom befree-2016 NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_provenance.
- NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_assertion wasGeneratedBy ECO_0000203 NP499428.RARPgGkFn56hTCfkAY32wKAG_UEWbDJ1Kp3GLkAfVxTWg130_provenance.