Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion> ?p ?o ?g. }
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- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion type Assertion NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_head.
- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_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." NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_provenance.
- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion evidence source_evidence_literature NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_provenance.
- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion SIO_000772 18755274 NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_provenance.
- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion wasDerivedFrom lhgdn-20090331 NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_provenance.
- NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_assertion wasGeneratedBy ECO_0000203 NP203588.RA3dUBpqbxEVPMSq9C_5ul56AFaO1tN-UzMiuPtHogylg130_provenance.