Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_assertion description "[PTC mutations in both alleles generally cause the most severe, mutilating Hallopeau-Siemens (HS) variant of RDEB, whereas none of the PTC mutations resulted in severe phenotypes consistent with the HS subtype when coupled with p.Glu2857X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_assertion evidence source_evidence_literature NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_assertion SIO_000772 18440202 NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_assertion wasDerivedFrom befree-20140225 NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_assertion wasGeneratedBy ECO_0000203 NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP931419.RAkphIGk5Z6Dco_LTZKpX9tk6CxHEIVGgOgIXUrPBSLOw130_provenance.