Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion> ?p ?o ?g. }
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- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion type Assertion NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_head.
- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion wasGeneratedBy ECO_0000203 NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_provenance.
- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion wasDerivedFrom befree-2016 NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_provenance.
- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion SIO_000772 22152678 NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_provenance.
- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_assertion evidence source_evidence_literature NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_provenance.
- NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_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." NP944911.RAc9Ub9SxJ89lIC8lRRxVMST-iVngSsdOTC72SxVvt3-s130_provenance.