Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_assertion description "[Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome caused by deficiency of 7-dehydrocholesterol reductase catalysing the last step of cholesterol biosynthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_assertion evidence source_evidence_literature NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_assertion SIO_000772 17497248 NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_assertion wasDerivedFrom befree-2016 NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_assertion wasGeneratedBy ECO_0000203 NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.
- befree-2016 importedOn "2016-02-19" NP609581.RAAswOwmAWCpjOQ_8FOTK_LF6M-nJKXCibtOzhaXfHsM4130_provenance.