Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_assertion description "[Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_assertion evidence source_evidence_curated NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_assertion SIO_000772 12402271 NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_assertion wasDerivedFrom uniprot-2016 NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_assertion wasGeneratedBy ECO_0000218 NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2338.RASnnHXeBPO_BIdlp1nvv1WSPou7AYf2ioIpMdyOveUqc130_provenance.