Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_assertion description "[Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_assertion evidence source_evidence_literature NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_assertion SIO_000772 21221624 NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_assertion wasDerivedFrom befree-2016 NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_assertion wasGeneratedBy ECO_0000203 NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP864417.RA7ZBHUR0BoqoQ2XYIFbPIOfHzWiJ0_dmwN8FMWlCeinQ130_provenance.