Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion type Assertion NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_head.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion description "[Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_provenance.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion evidence source_evidence_literature NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_provenance.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion SIO_000772 17183586 NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_provenance.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion wasDerivedFrom befree-20140225 NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_provenance.
- NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_assertion wasGeneratedBy ECO_0000203 NP615789.RAuqnbjCbeS3yr3Mt3u1zYaSB8CsCY-JQOtm3eyCJNHBk130_provenance.