Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion description "[The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion evidence source_evidence_literature NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion SIO_000772 9517915 NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion wasDerivedFrom befree-2016 NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion wasGeneratedBy ECO_0000203 NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance.