Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP17235.RA8l9ozcXB2vXgvNmkqjaX3UcVUd2j_cnTrc_9BuA41cY#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 15263074 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.