Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion type Assertion NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_head.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_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." NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion evidence source_evidence_literature NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion SIO_000772 23712425 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion wasDerivedFrom befree-2016 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion wasGeneratedBy ECO_0000203 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.