Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_assertion description "[Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_assertion evidence source_evidence_literature NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_assertion SIO_000772 22166420 NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_assertion wasDerivedFrom befree-2016 NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_assertion wasGeneratedBy ECO_0000203 NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.
- befree-2016 importedOn "2016-02-19" NP946299.RAzHK3T_V5GN5BvyUpnA23jVuwJvGXnFIPM-SvpAKhblM130_provenance.