Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_assertion wasGeneratedBy ECO_0000203 NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_assertion wasDerivedFrom befree-20140225 NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_assertion SIO_000772 9268105 NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_assertion evidence source_evidence_literature NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_assertion description "[Eight novel mutations were identified in the gene encoding L1CAM, a neural cell adhesion protein, in patients/families with X-linked hydrocephalus (XHC) providing additional evidence for extreme allelic heterogeneity of the trait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP208192.RAtcIbGnAOTnpRpEz9m52G-jSfwev3CwKaHtIi17tsoRc130_provenance.