Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_assertion description "[DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_assertion evidence source_evidence_literature NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_assertion SIO_000772 17213252 NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_assertion wasDerivedFrom befree-2016 NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_assertion wasGeneratedBy ECO_0000203 NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.
- befree-2016 importedOn "2016-02-19" NP587990.RAQ1uXA6Rqjc4hOAhRVtBIkD9pcKnjSjGoYKIwTkeGORg130_provenance.