Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion> ?p ?o ?g. }
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- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion type Assertion NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_head.
- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion description "[Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A) is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_provenance.
- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion evidence source_evidence_literature NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_provenance.
- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion SIO_000772 22046416 NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_provenance.
- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion wasDerivedFrom befree-20140225 NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_provenance.
- NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_assertion wasGeneratedBy ECO_0000203 NP531233.RAZuhTcXCdaQ0Yv33M8Ga2LVclUHTUAhQpMCRxNXtlRvk130_provenance.