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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21233288 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutation of the inositol polyphosphate 5-phosphatase OCRL1 results in two disorders in humans, namely Lowe syndrome (characterized by ocular, nervous system, and renal defects) and type 2 Dent disease (in which only the renal symptoms are evident).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.