Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.G239R
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VSX1

NM_014588.6:p.G239R

Associated Papers

Genetics of Keratoconus: A Comprehensive Review.

Barcelo-Canton RH et al.

Genes, 2025

A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.

Chakravarty M et al.

European Journal of Ophthalmology, 2022

Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

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

The Genetics of Keratoconus: A Review.

Wheeler J et al.

Reproductive System & Sexual Disorders : Current Research, 2012

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

De Bonis P et al.

Molecular Vision, 2011

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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."