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- source_evidence_literature type ECO_0000212 NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_assertion description "[While the first available clinical records outlined a relatively homogeneous phenotype in NS/LAH, the present data emphasize that the phenotype spectrum associated with this invariant mutation is wider than previously recognized.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_assertion evidence source_evidence_literature NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_assertion SIO_000772 25331583 NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_assertion wasDerivedFrom befree-2016 NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_assertion wasGeneratedBy ECO_0000203 NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1230910.RAoNwTAu8wAjT3rRvO3djLv_zohu1SOhPAwE2CEQ0rHO4130_provenance.