Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.G384S
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KCND3

NM_001378969.1:p.G384S

Associated Papers

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

Avila-Jaque D et al.

Cerebellum (london, England), 2024

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

A Novel KCND3 Variant in a Korean Family With SCA19.

Ha H et al.

Journal of Clinical Neurology (seoul, Korea), 2022

35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.

Li M et al.

Frontiers in Molecular Neuroscience, 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

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Pollini L et al.

International Journal of Molecular Sciences, 2020

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.

Tada Y et al.

Journal of Human Genetics, 2020

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

32655623 (PubMed )
Supplement: Table_1.docx

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Kurihara M et al.

Cerebellum (london, England), 2018

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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."