Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion> ?p ?o ?g. }
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- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion type Assertion NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_head.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion description "[Mutations of SCN1A, encoding the voltage-gated sodium channel alpha1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion evidence source_evidence_literature NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion SIO_000772 18755274 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion wasDerivedFrom befree-20140225 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion wasGeneratedBy ECO_0000203 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.