Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion description "[The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion evidence source_evidence_literature NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion SIO_000772 9562526 NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion wasDerivedFrom befree-20150227 NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion wasGeneratedBy ECO_0000203 NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance.