Varaico: Literature-Extracted Genetic Variants

Gene:CD69
Variant:p.V174F
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CD69

NM_001781.2:p.V174F

Associated Papers

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Paulhus K et al.

International Journal of Molecular Sciences, 2020

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM et al.

Brain : a Journal of Neurology, 1999

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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."