Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_assertion description "[BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Bj�rnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_assertion evidence source_evidence_literature NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_assertion SIO_000772 17314340 NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_assertion wasDerivedFrom befree-20140225 NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_assertion wasGeneratedBy ECO_0000203 NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP808225.RAPv1UpvDEAQh_c2nWaV6n9xVa0nnYrAXL42n5OBRlr8U130_provenance.