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- source_evidence_literature type ECO_0000212 NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- befree-2016 importedOn "2016-02-19" NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_assertion wasGeneratedBy ECO_0000203 NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_assertion wasDerivedFrom befree-2016 NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_assertion SIO_000772 12522251 NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_assertion evidence source_evidence_literature NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.
- NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_assertion description "[Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP379862.RAYsJNUM4AHOObNW1A_zEb9okKGexuBmkA6VGcNpn5Fu4130_provenance.