Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion> ?p ?o ?g. }
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- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion type Assertion NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_head.
- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_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." NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_provenance.
- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion evidence source_evidence_literature NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_provenance.
- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion SIO_000772 18755274 NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_provenance.
- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion wasDerivedFrom lhgdn-20090331 NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_provenance.
- NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_assertion wasGeneratedBy ECO_0000203 NP140446.RAKlD54spV4Td4LU7tefGUo7dEY9SoFvNuVPnbiRQDR70130_provenance.