Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_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." NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion evidence source_evidence_literature NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion SIO_000772 19471859 NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion wasDerivedFrom befree-20140225 NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion wasGeneratedBy ECO_0000203 NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance.