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- source_evidence_literature type ECO_0000212 NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_assertion description "[In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_assertion evidence source_evidence_literature NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_assertion SIO_000772 16632484 NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_assertion wasDerivedFrom befree-2016 NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_assertion wasGeneratedBy ECO_0000203 NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP546347.RA4bKUaiAruJrpb-5Uq7S6_P_liwySwziuRSdT3GoJUSQ130_provenance.