Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion description "[A homozygous protein-truncating mutation in ABCA4 can cause a phenotype ranging from STGD to CRD as diagnosed at an early stage of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion evidence source_evidence_literature NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion SIO_000772 15017103 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion wasDerivedFrom gad-20130706 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion wasGeneratedBy ECO_0000203 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- gad-20130706 importedOn "2013-07-06" NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.