Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.D297fs
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KCNV2

NM_133497.4:p.D297fs

Associated Papers

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

de Guimaraes TAC et al.

The British Journal of Ophthalmology, 2024

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

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
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