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- source_evidence_literature type ECO_0000212 NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_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." NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_assertion evidence source_evidence_literature NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_assertion SIO_000772 16491085 NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_assertion wasDerivedFrom befree-2016 NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_assertion wasGeneratedBy ECO_0000203 NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.
- befree-2016 importedOn "2016-02-19" NP536790.RAfiBX9zLd9HDgoilxMaHy_nM1QvLevLN0PCPXEZ03f9o130_provenance.