Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion> ?p ?o ?g. }
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- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion type Assertion NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_head.
- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion wasGeneratedBy ECO_0000203 NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_provenance.
- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion wasDerivedFrom befree-2016 NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_provenance.
- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion SIO_000772 15563506 NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_provenance.
- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_assertion evidence source_evidence_literature NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_provenance.
- NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_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." NP470130.RAh6fAzG6ZxqSS9GjGUDTu-WKpO1kk9_Rha23Bp4O1YtY130_provenance.