Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1236704.RARrVk5Y7Z6ENAALHYk1o2nQmQ-rikVEWtuixBgtwJIOQ#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 24140113 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.