Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.R419H
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KCND3

NM_001378969.1:p.R419H

Associated Papers

An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.

Ågren R et al.

International Journal of Molecular Sciences, 2023

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Palombo F et al.

Neurology. Genetics, 2022

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.

Hsiao CT et al.

International Journal of Molecular Sciences, 2021

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