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- source_evidence_literature type ECO_0000212 NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- befree-2016 importedOn "2016-02-19" NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_assertion wasGeneratedBy ECO_0000203 NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_assertion wasDerivedFrom befree-2016 NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_assertion SIO_000772 18425437 NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_assertion evidence source_evidence_literature NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.
- NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_assertion description "[Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP666972.RAkI1K7if-KQCLdUZTRGotyo9q2GkObnj3thf5MU7qlYE130_provenance.