Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.M240R
Back to variants list

KCNQ3

NM_004519.4:p.M240R

Associated Papers

Clinical utility of exome sequencing in a pediatric epilepsy cohort.

Graifman JL et al.

Epilepsia, 2023

In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy.

Ritter DM et al.

Pediatric Neurology, 2021

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.

Miceli F et al.

Frontiers in Physiology, 2020

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."