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- source_evidence_literature type ECO_0000212 NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_assertion description "[We show that, in the retina, CEP290 associates with several microtubule-based transport proteins including RPGR, which is mutated in approximately 15% of patients with retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_assertion evidence source_evidence_literature NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_assertion SIO_000772 16632484 NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_assertion wasDerivedFrom befree-2016 NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_assertion wasGeneratedBy ECO_0000203 NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.
- befree-2016 importedOn "2016-02-19" NP546349.RAhORfr_wf7EhNtUxpV9n_7xIY8cTsjPgl5ZYXjOHQiEE130_provenance.