Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_assertion description "[K16 and K17 mutations have also been reported to produce phenotypes with little or no nail changes: K16 mutations can present as focal non-epidermolytic palmoplantar keratoderma (NEPPK) and K17 mutations can result in a phenotype resembling steatocystoma multiplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_assertion evidence source_evidence_literature NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_assertion SIO_000772 9028791 NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_assertion wasDerivedFrom befree-20140225 NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_assertion wasGeneratedBy ECO_0000203 NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP292621.RA0-UrKneVJqeV3XNsJV8osRA4deR6FwutBy_QsCT8zuc130_provenance.