Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.K258fs
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VSX2

NM_182894.3:p.K258fs

Associated Papers

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Brock DC et al.

Plos Genetics, 2026

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Smirnov VM et al.

Jama Ophthalmology, 2022

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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."