Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.G461*
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KCNV2

NM_133497.4:p.G461*

Associated Papers

Natural history and biomarkers of KCNV2-associated retinopathy.

Sakti DH et al.

Clinical & Experimental Ophthalmology, 2024

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Falsini B et al.

Scientific Reports, 2022

35260635 (PubMed )
Supplement: 41598_2022_7618_MOESM1_ESM.pdf

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

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

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Robson AG et al.

Retina (philadelphia, Pa.), 2010

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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."