Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion> ?p ?o ?g. }
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- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion type Assertion NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_head.
- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion wasGeneratedBy ECO_0000203 NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_provenance.
- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion wasDerivedFrom befree-20140225 NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_provenance.
- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion SIO_000772 15263074 NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_provenance.
- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_assertion evidence source_evidence_literature NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_provenance.
- NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_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." NP501925.RAn0zFFee8g6rFp_u-tuFolklChRqpjPMq7yXKQtwq5Us130_provenance.