Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1160932.RAMfeJivViO5VXrF6JJtKvzb4fmD5lFXxb_RmkZII7K8c#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22121117 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.