Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_assertion description "[We report two sibs with trisomy for the region 2p25.1--> pter and monosomy for the region 12p13.31--> pter, due to adjacent-1 segregation of a maternal balanced reciprocal translocation, 46,XX,t(2;12)(p25.1;p13.31).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_assertion evidence source_evidence_literature NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_assertion SIO_000772 10852377 NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_assertion wasDerivedFrom befree-20140225 NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_assertion wasGeneratedBy ECO_0000203 NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP675248.RA5ShkGE8yZOunBgGDLONxXwyCXBKCcsh9cgKG5Tc7cNg130_provenance.