Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP94063.RAMa7SWNUPKOa15UVVblmdN5fNlgeVfNsniSdWacJ2enM#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23147983 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[?-Amino adipic semialdehyde (?-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.