Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion description "[Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion evidence source_evidence_curated NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion SIO_000772 22152678 NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion wasDerivedFrom uniprot-20130724 NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion wasGeneratedBy ECO_0000218 NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.