Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion> ?p ?o ?g. }
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- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion type Assertion NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_head.
- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion description "[Patients with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome harbor mutations in the forkhead box P3 (FOXP3) gene in regulatory T cells, which leads to severe autoimmunity and immune deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_provenance.
- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion evidence source_evidence_literature NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_provenance.
- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion SIO_000772 20309000 NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_provenance.
- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion wasDerivedFrom befree-20140225 NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_provenance.
- NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_assertion wasGeneratedBy ECO_0000203 NP623871.RAW-hv7ELgiri73T5SOW64xvMIP116fE2XphsSdV7DDk4130_provenance.