Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion> ?p ?o ?g. }
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- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion type Assertion NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_head.
- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_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." NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_provenance.
- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion evidence source_evidence_literature NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_provenance.
- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion SIO_000772 20592249 NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_provenance.
- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion wasDerivedFrom befree-20140225 NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_provenance.
- NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_assertion wasGeneratedBy ECO_0000203 NP763113.RAsnErytJv1v6MD-OZ3sbwhMEmMD1MvNY6OEeW4NZbRZ0130_provenance.