Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.W450G
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KCNV2

NM_133497.4:p.W450G

Associated Papers

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Georgiou M et al.

American Journal of Ophthalmology, 2021

33309813 (PubMed )
Supplement: mmc1.pdf

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

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

Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.

Smith KE et al.

The Journal of Biological Chemistry, 2012

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S et al.

Ophthalmic Genetics, 2007

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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."