Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.N255T
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KCNA1

NM_000217.3:p.N255T

Associated Papers

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.

Tian WT et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

van der Wijst J et al.

The Journal of Biological Chemistry, 2010

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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."