Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP153382.RA1BB0b1h1mZx7hUVpZtOXGdha5b8cs-ykt_Sjpcb9A9c#assertion> ?p ?o ?g. }
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- assertion description "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18755274 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.