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- source_evidence_literature type ECO_0000212 NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_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." NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_assertion evidence source_evidence_literature NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_assertion SIO_000772 9328244 NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_assertion wasDerivedFrom befree-2016 NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_assertion wasGeneratedBy ECO_0000203 NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.
- befree-2016 importedOn "2016-02-19" NP1381835.RAaERX_s11Z1n9YUFCJU4KckdK1AM6-Qopdm2Q-H94Pro130_provenance.