Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_assertion description "[The bare lymphocyte syndrome, a severe combined immunodeficiency due to loss of major histocompatibility complex (MHC) class II gene expression, is caused by inherited mutations in the genes encoding the heterotrimeric transcription factor RFX (RFX-B, RFX5, and RFXAP) and the class II transactivator CIITA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_assertion evidence source_evidence_literature NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_assertion SIO_000772 10938133 NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_assertion wasDerivedFrom befree-20140225 NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_assertion wasGeneratedBy ECO_0000203 NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP618999.RAaYl_IWeO40TUrcByX5H1PSWhrshmEP3Nwed6P47YeD8130_provenance.