Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.S256A
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KCNV2

NM_133497.4:p.S256A

Associated Papers

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

de Guimaraes TAC et al.

The British Journal of Ophthalmology, 2024

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

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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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."