Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P448fs
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KCNQ1

NM_000218.3:p.P448fs

Associated Papers

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Giudicessi JR et al.

Circulation. Cardiovascular Genetics, 2013

Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Horr S et al.

Journal of Cardiovascular Electrophysiology, 2011

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

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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."