Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_assertion wasGeneratedBy ECO_0000203 NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_assertion wasDerivedFrom befree-20150227 NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_assertion SIO_000772 23371835 NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_assertion evidence source_evidence_literature NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.
- NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_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." NP597025.RA1m6JvewxrNhBbbmKU2qp3261evFJ7pKgcyDoN5FvfQs130_provenance.