Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion> ?p ?o ?g. }
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- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion type Assertion NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_head.
- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_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." NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_provenance.
- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion evidence source_evidence_literature NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_provenance.
- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion SIO_000772 20592249 NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_provenance.
- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion wasDerivedFrom befree-2016 NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_provenance.
- NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_assertion wasGeneratedBy ECO_0000203 NP822694.RA9dZiK6XBQqOu82BX7w6YXOPnyHGAV4ixjW23Pz5aN7I130_provenance.