Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R190insFs
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KCNQ1

NM_000218.3:p.R190insFs

Associated Papers

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

Wei J et al.

Human Mutation, 2000

Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

Tranebjaerg L et al.

American Journal of Medical Genetics, 1999

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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."