Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_assertion description "[In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after L-Dopa treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_assertion evidence source_evidence_literature NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_assertion SIO_000772 19491146 NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_assertion wasDerivedFrom befree-20150227 NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_assertion wasGeneratedBy ECO_0000203 NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP420597.RA6UM2T0mfrvonRvTOXYxUXDlfA89txYd0RzfvUfMG9SU130_provenance.