Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion type Assertion NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_head.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion description "[A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion evidence source_evidence_literature NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion SIO_000772 12615648 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion wasDerivedFrom befree-2016 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion wasGeneratedBy ECO_0000203 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.