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- source_evidence_literature type ECO_0000212 NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_assertion evidence source_evidence_literature NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_assertion SIO_000772 17993581 NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_assertion wasDerivedFrom befree-20150227 NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_assertion wasGeneratedBy ECO_0000203 NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP426569.RAxxD7W0N-55cM2ihJnll7Kk7dW4NkoK7TW_gFq0VHlfA130_provenance.