Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_assertion description "[A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_assertion evidence source_evidence_literature NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_assertion SIO_000772 23494922 NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_assertion wasDerivedFrom befree-20140225 NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_assertion wasGeneratedBy ECO_0000203 NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP316684.RAnP0aqo0TQ7oamoSpuQ6IQK20eMRKAlrPNs-i2HEn8PA130_provenance.