Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_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." NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_assertion evidence source_evidence_literature NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_assertion SIO_000772 10938133 NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_assertion wasDerivedFrom befree-20150227 NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_assertion wasGeneratedBy ECO_0000203 NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP671624.RAUcRiGl8SgY1GpNVhNXfiY9XBckuhsEamot5uwkvJCMs130_provenance.