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- source_evidence_literature type ECO_0000212 NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_assertion description "[De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_assertion evidence source_evidence_literature NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_assertion SIO_000772 24255920 NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_assertion wasDerivedFrom befree-20150227 NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_assertion wasGeneratedBy ECO_0000203 NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978661.RAkdBClfxbIzPb0EDHo2eJ_Ugcgfgm790bEkA7fLl0P5I130_provenance.