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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21257638 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.