Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1338026.RA9tLgN3SjFmmufort9x7q2TJY-_VqrQlfOHGfeHCZTs0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 20493458 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.