Varaico: Literature-Extracted Genetic Variants

Gene:KCNN2
Variant:p.H194insFs
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KCNN2

NM_021614.4:p.H194insFs

Associated Papers

Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.

Stodulska O et al.

International Journal of Molecular Sciences, 2025

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

Mochel F et al.

Brain : a Journal of Neurology, 2020

Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.

Raghuram V et al.

Neuroreport, 2017

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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."