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- source_evidence_literature type ECO_0000212 NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_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." NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion evidence source_evidence_literature NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion SIO_000772 19491146 NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion wasDerivedFrom gad-20150221 NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion wasGeneratedBy ECO_0000203 NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.
- gad-20150221 importedOn "2015-02-21" NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance.