Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_assertion description "[These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_assertion evidence source_evidence_curated NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_assertion SIO_000772 9328244 NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_assertion wasDerivedFrom uniprot-2016 NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_assertion wasGeneratedBy ECO_0000218 NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9514.RAEx2ThOL0GehX85d9cb9NWauNzb9COrXNHVdva6MycNc130_provenance.