Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion description "[Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion evidence source_evidence_literature NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion SIO_000772 7544125 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion wasDerivedFrom befree-2016 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion wasGeneratedBy ECO_0000203 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.