Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.V374A
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KCND3

NM_001378969.1:p.V374A

Associated Papers

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Kalm T et al.

American Journal of Human Genetics, 2024

38772379 (PubMed )
Supplement: mmc3.pdf

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

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Unknown Author

Neurology. Genetics, 2021

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Paucar M et al.

Neurology. Genetics, 2021

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