Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1355030.RAelAQXMa86CwEvvRKZZhJLHn9AsISsbwuznUHaLs3Utc#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20503319 provenance.
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- assertion wasGeneratedBy ECO_0000203 provenance.