
IndraLab
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KCNQ1 binds ion channel. 6 / 6
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6
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"As the Kv7.1 ion channel formed by the KCNQ1 gene requires tetramerization to function, in-frame pathogenic variants which are expressed at the RNA and protein level can potentially result in a more severe phenotype by interfering with the co-assembly of wildtype proteins (dominant-negative effect)."