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- source_evidence_literature type ECO_0000212 NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion description "[Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion evidence source_evidence_literature NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion SIO_000772 21911584 NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion wasDerivedFrom befree-20150227 NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion wasGeneratedBy ECO_0000203 NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_provenance.