Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_assertion description "[Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_assertion evidence source_evidence_literature NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_assertion SIO_000772 12840783 NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_assertion wasDerivedFrom befree-20150227 NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_assertion wasGeneratedBy ECO_0000203 NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.
- befree-20150227 importedOn "2015-02-27" NP320396.RAbO55BLMDvlkjuKC4RkSaXC4YZ44tNL_yb59OMy6JGck130_provenance.