Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion type Assertion NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_head.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_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." NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_provenance.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion evidence source_evidence_literature NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_provenance.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion SIO_000772 18755274 NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_provenance.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion wasDerivedFrom lhgdn-20090331 NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_provenance.
- NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_assertion wasGeneratedBy ECO_0000203 NP241492.RATYLNUKGzZ_kqDoETWRKLWYZqvWZtZ90OPxGmTGAveH8130_provenance.