Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.V460M
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KCNA3

NM_002232.5:p.V460M

Associated Papers

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Marchionni E et al.

Neurogenetics, 2026

De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

Soldovieri MV et al.

Annals of Neurology, 2024

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

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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."