Varaico: Literature-Extracted Genetic Variants

Gene:KCNN2
Variant:p.S570F
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KCNN2

NM_021614.4:p.S570F

Associated Papers

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.

Pauly MG et al.

Parkinsonism & Related Disorders, 2025

Early-Onset Neurodevelopmental Movement Disorder Secondary to Novel Mutation in KCNN2.

Fearon C et al.

Movement Disorders Clinical Practice, 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."