Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion description "[Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI) and Bruck syndrome (OI plus congenital contractures).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion evidence source_evidence_literature NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion SIO_000772 23712425 NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion wasDerivedFrom befree-20150227 NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion wasGeneratedBy ECO_0000203 NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_provenance.