Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.R330H
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KCNQ3

NM_004519.4:p.R330H

Associated Papers

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Wu X et al.

Neuroscience Bulletin, 2025

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM16_ESM.xlsx › Supplementary_Data_14_-_KCNQ3

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K et al.

Seizure, 2018

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Miceli F et al.

Epilepsia, 2015

The variable phenotypes of KCNQ-related epilepsy.

Allen NM et al.

Epilepsia, 2014

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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."