Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion> ?p ?o ?g. }
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- NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion type Assertion NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_head.
- 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.