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- source_evidence_literature type ECO_0000212 NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_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." NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_assertion evidence source_evidence_literature NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_assertion SIO_000772 19471859 NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_assertion wasDerivedFrom befree-20140225 NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_assertion wasGeneratedBy ECO_0000203 NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP686587.RATv08UdjLMfP9sU_tjK2qH2KgwE7yLhLqHLd5G4J23EU130_provenance.