Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_assertion description "[We report the molecular characterization of a new missense mutation of NEMO (A323P) which causes a severe form of incontinentia pigmenti (OMIM#308300), an inherited disease characterized predominantly by skin inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_assertion evidence source_evidence_literature NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_assertion SIO_000772 17728323 NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_assertion wasDerivedFrom befree-20140225 NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_assertion wasGeneratedBy ECO_0000203 NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP611966.RAOITJRMaHNjSKqegP5OE7cY19FiN8jS4nFPWzemJGnzw130_provenance.