Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_assertion description "[A mutation located in the 5'-untranslated region (5'-UTR) of the nerve-specific connexin-32 mRNA, previously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its effect on the expression of a reporter gene (luciferase) in transgenic mice and in transfected cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_assertion evidence source_evidence_literature NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_assertion SIO_000772 10931843 NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_assertion wasDerivedFrom befree-20140225 NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_assertion wasGeneratedBy ECO_0000203 NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP230518.RA8LQYds4mMvl6NBjERu_aackghJDugfZGbL403KhFzQM130_provenance.