Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.Q175H
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VSX1

NM_014588.6:p.Q175H

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

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

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

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

Verma A et al.

Bmc Research Notes, 2013

Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.

Dehkordi FA et al.

Acta Cytologica, 2013

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

Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.

Paliwal P et al.

Molecular Vision, 2011

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

A novel VSX1 mutation identified in an individual with keratoconus in India.

Paliwal P et al.

Molecular Vision, 2009

Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.

da Silva DC et al.

Journal of Ophthalmic & Vision Research, 0

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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."