Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion description "[Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion evidence source_evidence_literature NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion SIO_000772 24504730 NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion wasDerivedFrom befree-20150227 NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion wasGeneratedBy ECO_0000203 NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance.