Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion> ?p ?o ?g. }
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- NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_assertion type Assertion NP936129.RAuqMWG1EdFs2IZHB5ZC3aDED1pk1hkdM83YjiwW5AZ1s130_head.
- 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.