Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I337S
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KCNQ1

NM_000218.3:p.I337S

Associated Papers

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Pan X et al.

Channels (austin, Tex.), 2025

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F et al.

Brain : a Journal of Neurology, 2015

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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."