Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_assertion description "[Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_assertion evidence source_evidence_literature NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_assertion SIO_000772 11823106 NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_assertion wasDerivedFrom befree-2016 NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_assertion wasGeneratedBy ECO_0000203 NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.
- befree-2016 importedOn "2016-02-19" NP343828.RAvBMszjRJVbIwnIbRag7xDn9uxi7x7Xm69bLJ5xV4eeI130_provenance.