Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.N151S
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VSX1

NM_014588.6:p.N151S

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

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

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

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Loukovitis E et al.

Ophthalmology and Therapy, 2018

Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.

Bardak H et al.

Genetics and Molecular Research : Gmr, 2016

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

Genetics of keratoconus: where do we stand?

Abu-Amero KK et al.

Journal of Ophthalmology, 2014

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

Verma A et al.

Bmc Research Notes, 2013

VSX1 gene and keratoconus: genetic analysis in Korean patients.

Jeoung JW et al.

Cornea, 2012

The Genetics of Keratoconus: A Review.

Wheeler J et al.

Reproductive System & Sexual Disorders : Current Research, 2012

Review: keratoconus in Asia.

Kok YO et al.

Cornea, 2012

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

De Bonis P et al.

Molecular Vision, 2011

VSX1 gene analysis in keratoconus.

Tanwar M et al.

Molecular Vision, 2010

VSX1 gene variants are associated with keratoconus in unrelated Korean patients.

Mok JW et al.

Journal of Human Genetics, 2008

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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."