Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1391017.RAs1r9WY-W4aAiab4Jr8ztXptk_0938aZALhsIA1raWd8#assertion> ?p ?o ?g. }
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- assertion description "[Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 19508969 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.