Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion> ?p ?o ?g. }
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- NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_assertion type Assertion NP978024.RADD2SpuV4tmBWzLlN12Ha-PnkE30Z4yp7oh0lM2psjzk130_head.
- 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.