Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion> ?p ?o ?g. }
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- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion type Assertion NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_head.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion description "[Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion evidence source_evidence_curated NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion SIO_000772 19574260 NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion wasDerivedFrom uniprot-20130724 NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion wasGeneratedBy ECO_0000218 NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.