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- source_evidence_literature type ECO_0000212 NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_assertion description "[On consideration of the proposed function of BFSP2 in the lens cytoskeleton, it is likely that this alteration is the cause of cataracts in the members of the family we studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_assertion evidence source_evidence_literature NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_assertion SIO_000772 10729115 NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_assertion wasDerivedFrom befree-20150227 NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_assertion wasGeneratedBy ECO_0000203 NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP795776.RA9K8xC-dxrPPSKPefBW_CXXaCavC__Q4Ec4Akif5QRE0130_provenance.