Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_assertion wasGeneratedBy ECO_0000203 NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_assertion wasDerivedFrom befree-2016 NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_assertion SIO_000772 23456818 NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_assertion evidence source_evidence_literature NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.
- NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057469.RAw2FexgTFacqmU90uTNjj30OnVrzhLgxvd6XWPwlP4UM130_provenance.