Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_assertion description "[Using genetic mapping and positional candidate strategy, we have identified an in-frame deletion in a novel centrosomal protein CEP290 (also called NPHP6), leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_assertion evidence source_evidence_literature NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_assertion SIO_000772 16632484 NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_assertion wasDerivedFrom befree-20140225 NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_assertion wasGeneratedBy ECO_0000203 NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP571187.RAbJeF53namKVxJVMPkQI1IYu-kH_B5FJb47Cr_wst6xQ130_provenance.