Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.W46*
Back to variants list

KCNV2

NM_133497.4:p.W46*

Associated Papers

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 2020

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.

Guimaraes TAC et al.

Ophthalmic Genetics, 2020

32441199 (PubMed )
Supplement: IOPG_A_1766087_SM2520.pdf

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.

Lenis TL et al.

Jama Ophthalmology, 2013

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."