Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion> ?p ?o ?g. }
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- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion type Assertion NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_head.
- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion description "[CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_provenance.
- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion evidence source_evidence_literature NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_provenance.
- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion SIO_000772 18950740 NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_provenance.
- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion wasDerivedFrom befree-20150227 NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_provenance.
- NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_assertion wasGeneratedBy ECO_0000203 NP948164.RAy8yGlzanoytivHJCib-2vx5d4aJ0m4hvLqFi4OaAO-k130_provenance.