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- source_evidence_literature type ECO_0000212 NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_assertion description "[One patient with severe symptoms had low levels of homovanillic acid, 5-hydroxyindoleacetic acid, and GABA in his CSF repeatedly for 3 years before death (aged 58), while the 2nd patient died (aged 51) of an unrelated cause before developing any symptoms of the familial disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_assertion evidence source_evidence_literature NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_assertion SIO_000772 2247238 NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_assertion wasDerivedFrom befree-20150227 NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_assertion wasGeneratedBy ECO_0000203 NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP331018.RABt-ZHeOS3wUlZpPMJiL748jkL_bOrz5Jys8OZZEKrTI130_provenance.