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- source_evidence_literature type ECO_0000212 NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- befree-20150227 importedOn "2015-02-27" NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_assertion wasGeneratedBy ECO_0000203 NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_assertion wasDerivedFrom befree-20150227 NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_assertion SIO_000772 12610651 NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_assertion evidence source_evidence_literature NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.
- NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_assertion description "[R542Q in SCN1A was observed in one autism family and had previously been identified in a patient with juvenile myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682475.RANr_-yGeLaTKUAo5ipT2WezAFi_8LDxKgpOQl7JHSJ20130_provenance.