Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion> ?p ?o ?g. }
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- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion type Assertion NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_head.
- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion description "[Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_provenance.
- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion evidence source_evidence_literature NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_provenance.
- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion SIO_000772 21858451 NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_provenance.
- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion wasDerivedFrom befree-20140225 NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_provenance.
- NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_assertion wasGeneratedBy ECO_0000203 NP846167.RApKm6ikuUJH3Qz4ntSJy-08imABLmVkTwMhLvx4uxwxg130_provenance.