Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_assertion wasGeneratedBy ECO_0000203 NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_assertion wasDerivedFrom befree-20140225 NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_assertion SIO_000772 17855451 NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_assertion evidence source_evidence_literature NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_assertion description "[Failure to properly terminate SOX10 translation causes the generation of a deleterious functional domain that occurs because of translation of the normal 3'-UTR; the mutant fusion protein causes a severe neurological disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP356411.RAbimjsgnfcXynp3-HcnTKfvz3OO8oRtpEXE_YJD-LGEg130_provenance.