Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_assertion description "[Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_assertion evidence source_evidence_literature NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_assertion SIO_000772 8791519 NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_assertion wasDerivedFrom befree-20150227 NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_assertion wasGeneratedBy ECO_0000203 NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP969311.RAKIqDBgzC974s4lxbRJQnvAnIkLtAl5vZCuTe3u4PWlE130_provenance.