Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_assertion description "[These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_assertion evidence source_evidence_literature NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_assertion SIO_000772 12542510 NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_assertion wasDerivedFrom befree-2016 NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_assertion wasGeneratedBy ECO_0000203 NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.
- befree-2016 importedOn "2016-02-19" NP381102.RAmCjfJd1t2uwUxk_BMc0trAzln0x8P7M4iumoR2iQIxU130_provenance.