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- source_evidence_literature type ECO_0000212 NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_assertion description "[Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_assertion evidence source_evidence_literature NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_assertion SIO_000772 23974653 NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_assertion wasDerivedFrom befree-20150227 NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_assertion wasGeneratedBy ECO_0000203 NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP286849.RAnenuIXL-ivFQ3XCzxyhh-O476u9Q0_iCaGhzHKd8EP0130_provenance.