Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1391033.RAsuExWO5emU0wvAwQ5015ObP6y0nOtpC1K-AcpIYCsfg#assertion> ?p ?o ?g. }
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- assertion description "[In humans, mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the orphan receptor meckelin (TMEM67) that localizes to the ciliary transition zone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23283079 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.