Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_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." NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_assertion evidence source_evidence_literature NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_assertion SIO_000772 23166088 NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_assertion wasDerivedFrom befree-20140225 NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_assertion wasGeneratedBy ECO_0000203 NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP566143.RAFQ92K93pFvONZTr9So7vPi_5ckPi6_r6RyhoET3tlT8130_provenance.