Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion> ?p ?o ?g. }
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- NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_assertion type Assertion NP6873.RALkBPzJYYXQPs6nmMFdW3KH-60aukg02myT6CsBnINiM130_head.
- 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.