Varaico: Literature-Extracted Genetic Variants

Gene:PNLDC1
Variant:p.E325D
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PNLDC1

NM_001271862.2:p.E325D

Associated Papers

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

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

Imbrici P et al.

The European Journal of Neuroscience, 2006

Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.

Maylie B et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002

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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."