Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion> ?p ?o ?g. }
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- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion type Assertion NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_head.
- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion description "[WHIM(warts, hypogammaglobulinemia, recurrent bacterial infection, and myelokathexis) syndrome is a rare immunodeficiency caused in many cases by autosomal dominant C-terminal truncation mutations in the chemokine receptor CXCR4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_provenance.
- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion evidence source_evidence_literature NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_provenance.
- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion SIO_000772 16946301 NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_provenance.
- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion wasDerivedFrom befree-20140225 NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_provenance.
- NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_assertion wasGeneratedBy ECO_0000203 NP502890.RAmVIxBflSmzYVc_dkeAz_C96cRwXtwPtv4yP88Dd-wmQ130_provenance.