Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_assertion description "[Here, we describe 12 novel patients that carry MID1 mutations emphasizing that laryngo-tracheo-esophageal defects are very common in OS patients and, together with hypertelorism and hypospadias, are the most frequent findings among the full spectrum of OS clinical manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_assertion evidence source_evidence_literature NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_assertion SIO_000772 23791568 NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_assertion wasDerivedFrom befree-20150227 NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_assertion wasGeneratedBy ECO_0000203 NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP556438.RAoDVj28Ir0n_lzE14_IL1MQc0OoKHb_pUY8YBvH5CsTw130_provenance.