Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion description "[Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion evidence source_evidence_curated NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion SIO_000772 21633164 NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion wasDerivedFrom uniprot-20130724 NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion wasGeneratedBy ECO_0000218 NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.