Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion> ?p ?o ?g. }
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- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion type Assertion NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_head.
- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion description "[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 dehydrogenase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_provenance.
- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion evidence source_evidence_literature NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_provenance.
- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion SIO_000772 16491085 NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_provenance.
- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion wasDerivedFrom lhgdn-20090331 NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_provenance.
- NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_assertion wasGeneratedBy ECO_0000203 NP215695.RAVMwPoqKHQankSNtOKd16FLfSplf77llhHIxZnnB7FYQ130_provenance.