Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion> ?p ?o ?g. }
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- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion type Assertion NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_head.
- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion description "[Autosomal dominant gain-of-function truncations of CXCR4 are associated with warts, hypo-gammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, a primary immunodeficiency disorder characterized by neutropenia and recurrent infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_provenance.
- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion evidence source_evidence_literature NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_provenance.
- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion SIO_000772 20592249 NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_provenance.
- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion wasDerivedFrom befree-20140225 NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_provenance.
- NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_assertion wasGeneratedBy ECO_0000203 NP211329.RAqITf9eKl85rxdd4Ny-JaHMAxc36Xm9kjFn8dW-UFAcQ130_provenance.