Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion> ?p ?o ?g. }
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- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion type Assertion NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_head.
- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_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." NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_provenance.
- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion evidence source_evidence_literature NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_provenance.
- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion SIO_000772 19471859 NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_provenance.
- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion wasDerivedFrom befree-20150227 NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_provenance.
- NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_assertion wasGeneratedBy ECO_0000203 NP899366.RAxLccfXStK1N4oe72E7gfFBh1t0N2B7ne3A8EyIr_G-c130_provenance.