Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion> ?p ?o ?g. }
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- NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_assertion type Assertion NP642754.RA9jPHg_NM-EJH6fnmi2FBj1iYtVOb5jvAqh6fckBLfA4130_head.
- 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.