Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_assertion description "[A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_assertion evidence source_evidence_literature NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_assertion SIO_000772 23166088 NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_assertion wasDerivedFrom befree-2016 NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_assertion wasGeneratedBy ECO_0000203 NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.
- befree-2016 importedOn "2016-02-19" NP1029703.RATi_tIuBRLFyTPYhbzXdS5tgWuFR3EeAsRjiI5ORdK5w130_provenance.