Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_assertion description "[The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1 mutation in the Polish population, and 4) to define the group of patients in whom genetic testing is recommended.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_assertion evidence source_evidence_literature NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_assertion SIO_000772 18224570 NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_assertion wasDerivedFrom befree-2016 NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_assertion wasGeneratedBy ECO_0000203 NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.
- befree-2016 importedOn "2016-02-19" NP652114.RA2XI8JcrU_e0Oi7-Q5nKLurV2kEDFSPwyg82k87LgOmc130_provenance.