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- source_evidence_literature type ECO_0000212 NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_assertion description "[The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_assertion evidence source_evidence_literature NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_assertion SIO_000772 8931695 NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_assertion wasDerivedFrom befree-2016 NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_assertion wasGeneratedBy ECO_0000203 NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.
- befree-2016 importedOn "2016-02-19" NP1362960.RAnRha6RGgusxTm-ki8o2k8n59Ig-Ji_-ueavokjut66k130_provenance.