Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.L84fs
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VSX2

NM_182894.3:p.L84fs

Associated Papers

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

Brock DC et al.

Plos Genetics, 2026

41632798 (PubMed )
Supplement: pgen.1012027.s016.xlsx › S11_Table_-_pathogenic_variants

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM24_ESM.xlsx › Sheet1

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

Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

Zamani M et al.

Molecular Genetics and Genomics : Mgg, 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."