Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_assertion description "[We demonstrate that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_assertion evidence source_evidence_literature NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_assertion SIO_000772 19182804 NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_assertion wasDerivedFrom befree-20140225 NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_assertion wasGeneratedBy ECO_0000203 NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP308201.RA1ffd_tgVFEP3E-RczQj3n1XLNxgvXBe--CPUuPk9bp8130_provenance.