Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion description "[We identified a homozygous, loss-of-function mutation in PRKCD (PKC?) in a patient who presented with chronic lymphadenopathy, splenomegaly, autoantibodies, elevated immunoglobulins and natural killer dysfunction associated with chronic, low-grade Epstein-Barr virus infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion evidence source_evidence_literature NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion SIO_000772 23430113 NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion wasDerivedFrom befree-20150227 NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion wasGeneratedBy ECO_0000203 NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_provenance.