Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.L138fs
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KCNV2

NM_133497.4:p.L138fs

Associated Papers

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.

de Guimaraes TAC et al.

The British Journal of Ophthalmology, 2024

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

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Zelinger L et al.

Ophthalmology, 2013

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