Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion type Assertion NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_head.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion description "[We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_provenance.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion evidence source_evidence_literature NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_provenance.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion SIO_000772 16491085 NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_provenance.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion wasDerivedFrom befree-20150227 NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_provenance.
- NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_assertion wasGeneratedBy ECO_0000203 NP805353.RA0VpDOc-XtNiO_iutf-ptagxHnGUxTpxG9IWdg0EGYz0130_provenance.