Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_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." NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_assertion evidence source_evidence_literature NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_assertion SIO_000772 21221624 NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_assertion wasDerivedFrom befree-20140225 NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_assertion wasGeneratedBy ECO_0000203 NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.
- befree-20140225 importedOn "2014-02-25" NP508809.RAvdu9IR-zgKakPeSrvBBGPfbUv9qBVbnJGdGWheOoXms130_provenance.