Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.G279V
Back to variants list

KCNQ2

NM_172107.4:p.G279V

Associated Papers

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Chokvithaya S et al.

Scientific Reports, 2023

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Jiang T et al.

Frontiers in Molecular Neuroscience, 2021

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."