Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P369T
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KCNQ1

NM_000218.3:p.P369T

Associated Papers

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.

Bauer CK et al.

International Journal of Molecular Sciences, 2022

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

Wei AD et al.

Journal of Neurophysiology, 2022

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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."