Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_assertion description "[We report a novel congenital cataract causing mutation c.1751C>T in the EPHA2 gene and the previously reported splice mutation c.2826-9G>A in two new families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_assertion evidence source_evidence_literature NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_assertion SIO_000772 24014202 NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_assertion wasDerivedFrom befree-2016 NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_assertion wasGeneratedBy ECO_0000203 NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1108539.RACmW76D0J4j_KkD8KNbaAUzf9p5ZscmccfHpn66bPCyQ130_provenance.