Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.Q357R
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KCNA2

NM_004974.4:p.Q357R

Associated Papers

Computational Studies Show How the H463R Mutation Turns hKv1.5 into an Inactivation State.

Rahman RA et al.

The Journal of Physical Chemistry. B, 2024

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Döring JH et al.

International Journal of Molecular Sciences, 2021

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S et al.

Brain : a Journal of Neurology, 2017

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS et al.

Molecular Syndromology, 2016

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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."