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- source_evidence_literature type ECO_0000212 NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_assertion description "[We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_assertion evidence source_evidence_literature NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_assertion SIO_000772 18371931 NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_assertion wasDerivedFrom befree-2016 NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_assertion wasGeneratedBy ECO_0000203 NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.
- befree-2016 importedOn "2016-02-19" NP662672.RADirT_aCG9UK0aajEEcXStVtkALztft_65ySFovCEqm0130_provenance.