Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion wasGeneratedBy ECO_0000218 NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion wasDerivedFrom uniprot-20130724 NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion SIO_000772 22961002 NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion evidence source_evidence_curated NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion description "[Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.