Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.L293F
Back to variants list

KCNQ2

NM_172107.4:p.L293F

Associated Papers

Genetic neonatal seizures in the neonatal intensive care unit: Diagnostic and prognostic implications for three families.

Chen R et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.

Vanoye CG et al.

Jci Insight, 2022

35104249 (PubMed )
Supplement: jciinsight-7-156314-s075.pdf
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."