Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion> ?p ?o ?g. }
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- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion type Assertion NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_head.
- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion description "[Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_provenance.
- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion evidence source_evidence_literature NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_provenance.
- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion SIO_000772 19724992 NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_provenance.
- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion wasDerivedFrom befree-20140225 NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_provenance.
- NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_assertion wasGeneratedBy ECO_0000203 NP658086.RA39h8sAHJsPp0hPQBDn9Dm4qH6dbyWDIMoWaHMq4OEhA130_provenance.