Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion> ?p ?o ?g. }
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- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion type Assertion NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_head.
- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion description "[Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein, collagen type II, is a rare and severe skeletal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_provenance.
- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion evidence source_evidence_literature NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_provenance.
- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion SIO_000772 15574381 NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_provenance.
- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion wasDerivedFrom befree-20150227 NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_provenance.
- NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_assertion wasGeneratedBy ECO_0000203 NP546621.RAeFKW9NyXaaRPjF9DYXq0_w38xPq5Ay7IfwZIa0OD7GQ130_provenance.