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- source_evidence_literature type ECO_0000212 NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_assertion wasGeneratedBy ECO_0000203 NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_assertion wasDerivedFrom befree-20150227 NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_assertion SIO_000772 11092761 NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_assertion evidence source_evidence_literature NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.
- NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_assertion description "[This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662503.RA1VW84FGhPMeLWzu0irPSCSGff7JDyEUhyG1K7lBwasw130_provenance.