Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.M159_E160Splc
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KCNQ1

NM_000218.3:p.M159_E160Splc

Associated Papers

Spectrum of genetic variants detected in children tested for long QT syndrome.

Kemezyte A et al.

Bmc Cardiovascular Disorders, 2025

Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

Amin AS et al.

European Heart Journal, 2012

22199116 (PubMed )
Supplement: supp_ehr473_ehr473supp.doc
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."