Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_assertion description "[We report a novel mutation at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa responsive dystonia (DRD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_assertion evidence source_evidence_literature NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_assertion SIO_000772 7544125 NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_assertion wasDerivedFrom befree-20140225 NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_assertion wasGeneratedBy ECO_0000203 NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.
- befree-20140225 importedOn "2014-02-25" NP768091.RAHFyqyR4jl8nI1y0jazUALpy4yxZHfHgSWGTy36UYvig130_provenance.