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- source_evidence_literature type ECO_0000212 NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_assertion description "[To clarify the role of HEY2 in human CHD and AGS, we screened by direct sequencing 23 children with CHD and 38 patients diagnosed with AGS, which lack mutations in the JAG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_assertion evidence source_evidence_literature NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_assertion SIO_000772 15389319 NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_assertion wasDerivedFrom befree-20150227 NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_assertion wasGeneratedBy ECO_0000203 NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228587.RAiDuioSGBgefKOLJZxWRDAQKi8amEE2OXNSDNb-Kz9Wk130_provenance.