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- source_evidence_literature type ECO_0000212 NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_assertion description "[Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_assertion evidence source_evidence_literature NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_assertion SIO_000772 15574464 NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_assertion wasDerivedFrom befree-2016 NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_assertion wasGeneratedBy ECO_0000203 NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.
- befree-2016 importedOn "2016-02-19" NP470865.RA8WGXSON5ZAn-RzFs3xHItDSedfnM1t0_RNhxYvwMzpk130_provenance.