RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/SHA-384/696C6B55A0AFE81E833E8DBE944F2598AFEDC4F53FA9D7A6A42BCF831B29E10134DD3945345ED64F5759688C20A3FACEhttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/696C6B55A0AFE81E833E8DBE944F2598AFEDC4F53FA9D7A6A42BCF831B29E10134DD3945345ED64F5759688C20A3FACEhttp://www.w3.org/2000/01/rdf-schema#comment"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; Observational study of gene-disease association. (HuGE Navigator)"xsd:string
http://purl.uniprot.org/uniprot/#_7D5336EC1D8DC5BEF0297EC275EF90F8CDAA01F8F75D5BF672C5636C16EBD84D53B88B7669C721E2C1DC74220978A940http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/696C6B55A0AFE81E833E8DBE944F2598AFEDC4F53FA9D7A6A42BCF831B29E10134DD3945345ED64F5759688C20A3FACE
http://purl.uniprot.org/uniprot/E7DBM8http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/696C6B55A0AFE81E833E8DBE944F2598AFEDC4F53FA9D7A6A42BCF831B29E10134DD3945345ED64F5759688C20A3FACE
http://purl.uniprot.org/uniprot/#_E7DBM8-mappedCitation-18755274http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/696C6B55A0AFE81E833E8DBE944F2598AFEDC4F53FA9D7A6A42BCF831B29E10134DD3945345ED64F5759688C20A3FACE