Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_assertion description "[Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_assertion evidence source_evidence_literature NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_assertion SIO_000772 21871435 NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_assertion wasDerivedFrom befree-20140225 NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_assertion wasGeneratedBy ECO_0000203 NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.
- befree-20140225 importedOn "2014-02-25" NP473079.RAFILzei3sGsgJhhFhYC_B-E4YoYEvtJB-b20wn9heL9o130_provenance.