Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion> ?p ?o ?g. }
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- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion type Assertion NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_head.
- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_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." NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_provenance.
- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion evidence source_evidence_literature NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_provenance.
- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion SIO_000772 10938133 NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_provenance.
- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion wasDerivedFrom befree-20140225 NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_provenance.
- NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_assertion wasGeneratedBy ECO_0000203 NP640953.RAy0hFZaJHXx9W2-Itj-H2ZYk_AxwD2xCpU4pXpcCetEs130_provenance.