Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_assertion description "[Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_assertion evidence source_evidence_literature NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_assertion SIO_000772 22821627 NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_assertion wasDerivedFrom befree-20140225 NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_assertion wasGeneratedBy ECO_0000203 NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP566754.RArivprTxywG2C_bbK81IdiApv0U4nqZSh7PECfREvHA0130_provenance.