Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion> ?p ?o ?g. }
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- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion type Assertion NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_head.
- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_provenance.
- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion evidence source_evidence_literature NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_provenance.
- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion SIO_000772 19464834 NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_provenance.
- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion wasDerivedFrom befree-20140225 NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_provenance.
- NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_assertion wasGeneratedBy ECO_0000203 NP584814.RA_nszuqNKTC4Wu1U25AXo49BlNBY1BEF51JLIGj1Lmg8130_provenance.