Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.R320H
Back to variants list

KCNV2

NM_133497.4:p.R320H

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S3.pdf

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Miceli F et al.

Frontiers in Cellular Neuroscience, 2015

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."