Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion> ?p ?o ?g. }
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- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion type Assertion NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_head.
- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_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." NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_provenance.
- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion evidence source_evidence_literature NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_provenance.
- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion SIO_000772 16491085 NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_provenance.
- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion wasDerivedFrom befree-20140225 NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_provenance.
- NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_assertion wasGeneratedBy ECO_0000203 NP340222.RAHzzCUh2ySvW-RLLstpyDnSNJOckYfgFbMumaWDDYDTI130_provenance.