Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.F400delFs
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KCNV2

NM_133497.4:p.F400delFs

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

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 ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function.

Stockman A et al.

Investigative Ophthalmology & Visual Science, 2014

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Sergouniotis PI et al.

The British Journal of Ophthalmology, 2012

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