Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion description "[Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion evidence source_evidence_literature NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion SIO_000772 23939262 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion wasDerivedFrom befree-20150227 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion wasGeneratedBy ECO_0000203 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.