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- source_evidence_literature type ECO_0000212 NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_assertion wasGeneratedBy ECO_0000203 NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_assertion wasDerivedFrom befree-20150227 NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_assertion SIO_000772 22212387 NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_assertion evidence source_evidence_literature NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.
- NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_assertion description "[Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247594.RAbweEhi-FWBAccnO0MyQH65kaQ-8P9r1UDHiYeEypXPo130_provenance.