Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_assertion wasGeneratedBy ECO_0000203 NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_assertion wasDerivedFrom befree-2016 NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_assertion SIO_000772 23371835 NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_assertion evidence source_evidence_literature NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.
- NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_assertion description "[Here, we report a PNP-deficient patient who presented early in life with clinical and laboratory characteristics of severe combined immunodeficiency, including severe infections, marked T-and B-cell deficiency, lack of lymphocyte response to mitogenic stimulation, monoclonal T-cell receptors representation and the absence of T-cell receptor excision circles and Kappa-receptor excision circles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1049056.RAD1YTMkknQimyErwTRQo7Lw_MNLOaGK-G73J5z-G62Lg130_provenance.