Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_assertion description "[A p.Glu2857X mutation exhibits mild pathogenic effects in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in dystrophic epidermolysis bullosa patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_assertion evidence source_evidence_literature NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_assertion SIO_000772 18440202 NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_assertion wasDerivedFrom lhgdn-20090331 NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_assertion wasGeneratedBy ECO_0000203 NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP150707.RAeaaY692BBy4cHuqm0rN0ghOAS_AK6TjX5N_Nm4VVANA130_provenance.