Varaico: Literature-Extracted Genetic Variants

Gene:KCNN2
Variant:p.L388V
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KCNN2

NM_021614.4:p.L388V

Associated Papers

Functional validation of human SK channels variants causing NEDMAB and Zimmermann-Laband syndrome-3 in C. elegans.

Sechi S et al.

Brain Communications, 2025

A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.

d'Apolito M et al.

Genes, 2023

Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Nam YW et al.

Acta Pharmacologica Sinica, 2023

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Mochel F et al.

Brain : a Journal of Neurology, 2020

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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."