Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_assertion wasGeneratedBy ECO_0000203 NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_assertion wasDerivedFrom befree-20140225 NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_assertion SIO_000772 19339306 NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_assertion evidence source_evidence_literature NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_assertion description "[Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP564134.RAj-tzV5C-c_sELSWAMLZj7RrDUFrInmAbSJlHiSgNkRQ130_provenance.