Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_assertion description "[This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_assertion evidence source_evidence_literature NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_assertion SIO_000772 16450407 NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_assertion wasDerivedFrom befree-2016 NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_assertion wasGeneratedBy ECO_0000203 NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP533945.RAUkuRW0iGVGwKxeDPLYTO0E1tFNusVr6K2OTZcaduQFQ130_provenance.