Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_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." NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion evidence source_evidence_curated NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion SIO_000772 22152678 NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion wasDerivedFrom uniprot-2016 NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion wasGeneratedBy ECO_0000218 NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_provenance.