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- source_evidence_literature type ECO_0000212 NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_assertion description "[An 8-months-old male infant with a mutation in the polyadenylation site of FOXP3 gene, absence of FOXP3 protein expression and clinical manifestations of IPEX syndrome, including eczema, colitis, failure to thrive, TPN requirement, and elevated serum IgE, underwent matched unrelated hematopoietic stem cell transplant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_assertion evidence source_evidence_literature NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_assertion SIO_000772 19471859 NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_assertion wasDerivedFrom befree-20140225 NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_assertion wasGeneratedBy ECO_0000203 NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP368191.RA-kOwyCF5MxBdY-_jmjMnKH8sl9ZPfQtHtenKJ6lubiQ130_provenance.