Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion description "[A missense mutation was identified in the voltage-gated sodium (Na(+))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS+1) family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion evidence source_evidence_literature NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion SIO_000772 11823106 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion wasDerivedFrom befree-20150227 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion wasGeneratedBy ECO_0000203 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.