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- source_evidence_literature type ECO_0000212 NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_assertion description "[Study identified the mutation at the GCH1 gene, IVS5+3insT, as the cause of Dopa-responsive dystonia in a Brazilian family ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_assertion evidence source_evidence_literature NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_assertion SIO_000772 18752196 NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_assertion wasDerivedFrom lhgdn-20090331 NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_assertion wasGeneratedBy ECO_0000203 NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP203895.RAUfHuXo9RoxTuBL001R7VeiWpqnFEcf5R3Qx0lc06ZGk130_provenance.