Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.S251T
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VSX1

NM_014588.6:p.S251T

Associated Papers

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

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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."