Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion wasGeneratedBy ECO_0000218 NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion wasDerivedFrom uniprot-20130724 NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion SIO_000772 19425169 NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion evidence source_evidence_curated NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion description "[Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.