Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.R168Splc
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VSX1

NM_014588.6:p.R168Splc

Associated Papers

Genetics of Keratoconus: A Comprehensive Review.

Barcelo-Canton RH et al.

Genes, 2025

The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.

Deva JP et al.

Indian Journal of Ophthalmology, 2023

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.

Shetty R et al.

Bmc Medical Genetics, 2015

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

Verma A et al.

Bmc Research Notes, 2013

Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.

Stabuc-Silih M et al.

Cornea, 2010

Molecular analysis of the VSX1 gene in familial keratoconus.

Liskova P et al.

Molecular Vision, 2007

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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."