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- source_evidence_literature type ECO_0000212 NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_assertion description "[CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_assertion evidence source_evidence_literature NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_assertion SIO_000772 18772192 NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_assertion wasDerivedFrom befree-2016 NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_assertion wasGeneratedBy ECO_0000203 NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.
- befree-2016 importedOn "2016-02-19" NP691584.RABzJuaTHI3eExjiJhEMJ-jeUizU2MgfhRC7V0euNH1dg130_provenance.