Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.P477H
Back to variants list

KCNA3

NM_002232.5:p.P477H

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."