Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- befree-2016 importedOn "2016-02-19" NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_assertion wasGeneratedBy ECO_0000203 NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_assertion wasDerivedFrom befree-2016 NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_assertion SIO_000772 16205833 NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_assertion evidence source_evidence_literature NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.
- NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_assertion description "[Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP516473.RAVhjFUm02gKS2_7V2nYfHHNfve8Mh0Jib_7lusU3RIw0130_provenance.