Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion> ?p ?o ?g. }
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- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion type Assertion NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_head.
- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion description "[We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_provenance.
- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion evidence source_evidence_literature NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_provenance.
- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion SIO_000772 20503319 NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_provenance.
- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion wasDerivedFrom befree-20140225 NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_provenance.
- NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_assertion wasGeneratedBy ECO_0000203 NP651594.RA6Gpq8CwdHmY_4IlQEehxXb6d250EKYOiTezU9m0OzCo130_provenance.